If you find this website useful, please reference our publication, Saunders et al, 2005. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
Human Mutation. 2005. 26:192
| Reference | Title | Citation |
| Alhaq et al 1999 |
Idenitification of a novel mutation in a non-Jewish facor XI deficient kindred |
Bri
t J of Haem (1999) 104:44-49 |
| Alhaq et al 2000 |
Novel mutations in heterozygous factor XI deficiency and hemorrhagic tendency |
Bloo
d (2000) 96:80b |
| Asakai et al 1989 |
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point
mutations |
Proc Natl Acad Sci USA (1989) 86:7667-71 |
| Asakai et al 1991 |
Factor XI deficiency in Ashkenazi jews in Israel |
N Eng J Med (1991) 325:153-8 |
| Au et al 2003 |
Two Factor XI Mutations in a Chinese Family with Factor XI Deficiency |
Am J Hem (2003)
74:136-138 |
| Bodfish et al 1991 |
Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymorphism chain reaction |
Nuc. Res. Acids (1991) 19:6979 |
| Bolton-Maggs et al 1999 Abstract |
Eight novel mutations in factor XI deficient kindreds in northern eu
rope. |
Thromb Haemost (suppl):1999:P2542. |
| Bolton-Maggs et al 2003 Abstract |
Eleven novel mutaitons in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing |
J Th
romb Haem (2003) Suppl:P1687 |
| Bolton-Maggs et al 2004 |
A common ancestral mutation (C128X) occuring in 11 non-Jewish families from the UK with factor XI deficiency |
J Thromb Haem (2004) 2:918-2
4 |
| Bozzao C et al 2007 |
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency. |
FEBS J. 2007 Dec;274(23):6128-38. |
| Butler & Parsons 1990 |
RFLP for intron E of factor XI gene |
Nuc. Acids. Res (1990) 18:5327 |
| Cargill et al 1999 |
Characterization of single-nucleotide polymorphisms in coding regions of human gen
es |
Nature Genetics (1999) 22:231 |
| Castaman G 2008 |
Factor XI gene mutations in factor XI deficient patients of the Czech Republic. |
Am J Hematol. 2008 Dec;83(12):916-9 |
| Castaman G et al 2005 |
Eight Novel Mutations in FXI Gene |
J Thromb Haemost 2005; 3 (suppl.1): P2040 |
| Castaman G et al 2007 |
ISTH Abstract: P-S-204 TEN NOVEL MUTATIONS IN FXI GENE |
J Thromb Haemost 2007; 5 Supplement 2: P-S-204 |
| Castaman G et al 2008 |
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. |
Haematologica. 2008 Jun;93(6):957-8. |
| Dai et al 2004 |
Severe factor XI deficiency caused by compound heterozygosity |
Brit J of Haem (2004)
125:814-820 |
| de Moerloose et al 2004 |
Severe factor XI deficiency in a lebanese family: identification of a novel m
issense mutation (Trp501Cys) in the catalytic domain |
Blood Coagul Fibrinolysis (2004) 15:269-72 |
| de Raucourt E et al 2008 |
Four novel FXI gene mutations in three factor XI- deficient patients.
|
Blood Coagul Fibrinolysis. 2008 Apr;19(3):240-2. |
| Dossenbach-Glaninger and Hopmeier 2 |
Hereditary factor XI deficiency: Novel and rare mutations in austrian patients |
Ann Hematol 82 (Sup 1):039 |
| Dossenbach-Glaninger et al 2001 |
Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G)
|
Brit J of Haem (2001) 114:875-877 |
| Dossenbach-Glaninger et al 2002 |
Hereditary factor XI deficiency: Novel and rare mutations and polymor
phisms in Austrian patients |
J Lab Med 2002; 26:219 |
| Duncan EM et al 2008 |
Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis. |
Pathology. 2008 Jun;40(4):401-6. |
| Fard-Esfahani P et al 2008 |
Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients. |
Haemophilia. 2008 Jan;14(1):91-5 |
| Gailani D et al 2007 |
A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect. |
J Thromb Haemost. 2007 Apr;5(4):781-7. |
| Gailani et al 2001 Abstract |
Factor XI-Asn248: A variant with a platelet binding defect |
Thromb Haemost (2001) Suppl July OC1028 |
| Gailani et al 2001 Abstract B |
Amino acid substitutions in the Factor XI catalytic dokain associated w
ith Factor XI deficiency |
Thromb Haemost (2001) Suppl July P1112 |
| Germanos-Haddad et al 2003 Abstract |
Molecular analysis of factor XI deficiency in 8 lebanese families: identification of two novel mutations |
J Throm Haem (2003) 1 Supp1 :P1207 |
| Germanos-Haddad et al 2005 |
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. |
Haematologica. (2005) 90:41
8-9 |
| Guella I et al 2008 |
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. |
Thromb Haemost. 2008 Mar;99(3):523-30. |
| Hancock et al 1991 |
A Molecular Genetic Study of Factor XI Deficiency |
Blood (1991) 77:1942-8 |
| Hill et al 2005 |
Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deleti
on. |
Br J Haematol. 2005 129:825-9. |
| Ho DH et al 2000 |
Factor XI binding to activated platelets is mediated by residues R(250), K(255), F(260), and Q(263) within the apple 3 domain. |
Biochemistry. 2000 Jan 18;39(2):316-23. |
| Iijima et al 2000 |
A factor XI deiciency associated with a nonsense mutation (Trp501Stop) in the catal
ytic domain |
Brit J of Haematology (2000) 111:556-58 |
| Imanaka et al 1995 |
Identification of two novel mutations in non-Jewish factor XI deficiency |
Brit J
of Haem (1995) 90:916-20 |
| Ishikawa N et al 2007 |
A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients. |
Blood Coagul Fibrinolysis. 2007 Jul;18(5):519-23 |
| Jayandharan et al 2005 |
Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and fa
ctor IX deficiency (Phe349Val). |
J Thromb Haemost. (2005) 3:808-11. |
| Karimi M et al 2009 |
Factor XI deficiency in Southern Iran: identification of a novel missense mutation. |
Ann Hematol. 2009 Apr;88(4):359-63. |
| Kawaguchi et al 2000 |
A novel type of factor XI deficiency showing compound genetic abnormalities: a n
onsense mutation and an impaired transcription. |
Int J Hematol. (2000) 71:84-9. |
| Kravtsov et al 2002 Abstract |
A model for Autosomal Dominant factor XI Deficiency |
Blood (2002) 100:2
1a |
| Kravtsov et al 2004 |
Dominant factor XI deficiency caused by mutations in the factor XI catalytic doma
in |
Blood (2004) 104:128-134 |
| Kravtsov et al 2005 |
A classification system for cross-reactive material negative factor XI deficiency
. |
Blood. 2005 Feb 22; [Epub ahead of print] |
| Kuroda K et al 2005 |
Functional Analysis o Two Recombinant Missense Mutant Factor XI, F221S ad C212R |
J Thromb Haemost 2005; 3 (Suppl 1): P1313 |
| Kwon MJ et al 2008 |
Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene. |
Blood Coagul Fibrinolysis. 2008 Oct;19(7):679-83 |
| Martincic et al 1998 |
Identification of Mutations and Polymorphisms in the Factor XI Genes of an African American Family by Dideoxyfingerprinting |
Blood (1998) 92:3309-17 |
| Mathonet et al 1999 Abstract |
E296K substitution in factor XI deficiency. |
Thromb Haemost (suppl):199
9:P1078 |
| McVey et al, 2005 |
Characterisation of blood coagulation factor XI T475I. |
Thromb Haemost. 2005 93:10
82-8 |
| Meijers et al 1992 |
Expression of Human Blood Coagulation Factor XI: Characterization of the Defect in Factor XI Type III Deficiency |
Blood (1992) 79:1435-40 |
| Mitchell et al 1999 |
Heterozygous factor XI deficiency associated with three novel mutations |
Brit J
of Haem (1999) 107:763-5 |
| Mitchell et al 2003 |
Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid
chromatography |
Brit J Haem (2003)121:500-02 |
| Mitchell et al 2004 |
An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrela
ted patients. |
Blood. 2004 104:2394-6 |
| Mitchell et al., 2006 |
Spectrum of factor XI (F11) mutations in the UK population - 116 index cases an
d 140 mutations. |
Hum Mutat. 27:829 |
| Mitchell MJ et al 2007 |
Characterisation of five factor XI mutations. |
Thromb Haemost. 2007 Jun;97(6):884-9 |
| Morishita et al 2003 Abstract |
Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families |
J Thromb Haem (2003) Suppl 1:P1211d
|
| Neerman-Arbez et al 2007 |
SEVERE FACTOR XI DEFICIENCY IN A JEWISH CHILD CAUSED BY COMPOUND HETEROZYGOTY FOR A NOVEL NONSENSE MUTATION (TYR-14X, EXON 2) AND THE COMMON TYPE II MUTATION (GLU1 17X, EXON 5) |
J Thromb Haemost 2007; 5 (Suppl 2): PS246 |
| O'Connell et al 2005 |
Structural of 42 mutations causing factor XI deficiency using homology modeling
. |
J Thromb Haemost (2005) 3:127 |
| Okumura K et al 2006 |
Recurrent mutations of factor XI gene in Japanese. |
Int J Hematol. 2006 Jun;83(5):462-3. |
| Peretz et al 1997 |
The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another
of More Recent European Origin |
Blood (1991) 90:2654-9 |
| Peretz H et al 1996 |
A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. |
Hum Mutat. 1996;8(1):77-8 |
| Pugh et al 1995 |
Six Point Mutations That Cause Factor XI Deficiency |
Blood (1995) 85:1509-16 |
| Quelin et al 2004 |
Molecular basis of severe factor XI deficiency in seven families fromthe west of france. Seven novel mutations,including an ancient Q88X mu
tation |
J Throm Haem (2003) 2:71-76 |
| Quelin et al, 2006 |
Identification of five novel mutations in the factor XI gene (F11) of patients wit
h factor XI deficiency. |
Blood Coagul Fibrinolysis. 2006; 17:69-73. |
| Quelin et al., 2005 |
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). |
Haematologica. 2005 Aug;90(8):1149-50. |
| Quelin F et al 2009 |
Prospective analysis of factor XI deficiencies in the Marsailles area identified four novel mutations among 12 consecutive unrelated families |
Blood Coagulation and Fibrinolysis 2009; 20: 84-88 |
| Ramadan KM et al 2006 |
A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient. |
Blood Coagul Fibrinolysis. 2006 Sep;17(6):499-502. |
| Sato et al 2000 |
A novel mutation that leads to a congenital factor XI deficiency in a Japanese Family
|
Am J Hem (2000) 63:165-9 |
| Saunders et al, 2005 |
Factor XI deficiency database: an interactive web database of mutations, phenoty
pes, and structural analysis tools. |
Human Mutation (2005) 26:192 |
| Saunders RE et al 2009 |
Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. |
Thromb Haemost. 2009 Aug;102(2):287-301. |
| Schmidt et al 2004 |
Structural role of Gly193 in serine proteases |
J Biol Chem (2004) 279:29483-92 |
| Shpilberg et al 1995 |
One of the Two Common Mutations Causing Factor XI Deficiency in Ashkenazi Jews (Type II) Is also Prevalent in Iraqi Jews, Who Represent the
Ancient Gene Pol of Jews |
Blood (1995) 85:429-32 |
| Solda et al, 2005 |
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and
factor XI deficiency. |
Haematologica 90:1716-8. |
| Spena S et al 2009 |
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency. |
Thromb Haemost. 2009 Sep;102(3):603-6. |
| Sun et al 2001 |
Defective binding of factor XI-N248 to activated human platelets |
Blood (2001)98:125-
9 |
| Takamiya et al, 2005 |
Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-termi
nal region. |
Haematologica. 2005 90:999 |
| Tarumi et al 2003 |
Common single nucleotide polymorphism in the promotor region of the human factor XI
gene. |
J Thromb Haemost 1:1854 (2003) |
| Tsukahara et al 2003 |
Compound heterozygosity for two novel mutations in a severe factor XI deficiency. |
Compound heterozygosity for two novel mutations in |
| Vasileiadis I et al 2009 |
First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage. |
Blood Coagul Fibrinolysis. 2009 Jun;20(4):309-13 |
| Ventura et al 2000 |
Molecular genetic analysis of Factor XI deficiency: Identification of five novel gene alterations and the origin of Type II mutation in por
tuguese families |
Thromb Haemost (2000) 82:833-40 |
| Wang J et al 2009 |
A case of factor XI deficiency caused by compound heterozygous F11 gene mutation. |
Haemophilia. 2009 Mar;15(2):603-6. |
| Wistinghausen et al 1997 |
Severe factor XI deficiency in an Arab family associated with a novel mutati
on in exon 11 |
Brit J of Haem (1997) 99:575-577 |
| Wu et al 2003 Abstract |
Identification of two novel factor XI non-sense mutation Trp228Stop and Trp283stop in a Chinese pedigree of congenital factor XI deficiency
|
Zhonghua Xue Ye Xue Za Zhi. 2003 3:126-8 |
| Wu et al 2004 Abstract |
FXI gene mutations in two pedigrees of congenital clotting factor XI deficienc
y |
Zhonghua Xue Ye Xue Za Zhi. (2004) 25:132-5. |
| Xie et al, 2005 |
The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4del
gttg |
Zhonghua Xue Ye Xue Za Zhi. 2005 26:144-7. |
| Zacharski 1978 |
Factor XI (PTA) deficiency in an English-American kindred. |
Haemost. (1978) 39:215-2
2 |
| Zadra et al, 2004 |
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italia
n patients. |
Haematologica. 2004 89:1332-40. |
| Zivelin et al 1999 Abstract |
Identification of 3 novel mutations in the factor XI gene in Jewish patie
nts |
Thromb Haemost (suppl):1999:P893 |
| Zivelin et al 1999 Abstract 2 |
Identification of 5 novel factor XI mutations in french basques |
Haematologica 1999 84(Suppl2):0549 |
| Zivelin et al 2001 Abstract |
Severe Factor XI deficiency cause by a gly555glu mutation encodes for a c
ross reacting material positive Factor XI |
Thromb Haemost (2001) Suppl July P1111 |
| Zivelin et al 2002 |
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene |
Blood (2002) 99:24
48-2454 |
| Zivelin et al 2003 Abstract |
Substitutions of conserved Gly193 (numbering according to chymotrypsin) located neart the catalytic triad of factors VII, IX and XI yield d
ysfunctional proteins probably due to interference with accessibility of the respective substrates. |
J Thromb Heam (2003) Suppl 1 P1686 |
| Zivelin et al 2003 Abstract B |
Investigation og Gly555Glu CRM Positive Factor XI Mutant: Structural ro
le of Gly555 (193 in chymotrypsin) in Serine Proteases. |
Blood (2003) 102:301a |
| Zivelin et al 2004 |
Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in
factor IX activation. |
J Thromb Haemost. 2004 10:1782-9. |
| Zivelin et al., 1999 Abstract |
Identification of 5 novel factor XI mutations in french basques |
Haematologica 1999 84(Suppl2):0549 |
| Zucker M et al 2007 |
Characterization of seven novel mutations causing factor XI deficiency. |
Haematologica. 2007 Oct;92(10):1375-80. |