Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.
Seven further molecular bases of C7 deficiency are described. All these new molecular defects involve single-nucleotide events, deletions and substitutions, some of which alter splice sites, and others codons. They are distributed along the C7 gene, but predominantly towards the 3' end. All were found in compound heterozygous individuals. The C6/C7 marker haplotypes associated with most C7 defects are tabulated.
Fernie
B A
BA
Molecular Immunopathology Unit, Medical Research Council Centre, Cambridge, UK.
Hobart
M J
MJ
D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion
D003184:Complement C7