FH aHUS Mutation Database
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HUS
MPGN
AMD
Factor H
Factor I
MCP
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MCP
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New Mutations
Please inform us of any new mutations that have been published in order to keep the database up to date
Protein:
FH
FI
MCP
Nucleotide:
Codon:
Initial Residue:
Mutated Residue:
Mutation Type:
Point
Insertion
Deletion
Polymorphism
Symptom:
Mild
Moderate
Severe
Genotype:
Het
Hom
Compound Het
Protein Level in Plasma:
Low
Normal
Elevated
C3 Level:
Low
Normal
Elevated
Founder:
Sporadic
Familial
Reference:
Assay Details/Control Levels:
Comments:
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