Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.
Lawrence
A
A
Hol
F
F
Aggarwal
A
A
Drenth
J P H
JP
D000293:Adolescent; D002648:Child; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D035781:Siblings; D013577:Syndrome
D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase