Article
[Genetic analysis of two patients with adenosine deaminase (ADA)-deficiency: detection of three novel mutations and characterization of two paradoxical carriers].
Arerugi = [Allergy] - 1 Dec 2000
Oda N, Ariga T, Ono S, Kobayashi I, Kawamura N, Okano M, Kobayashi Y, Taniuchi S, Terada K, Kataoka N, Sakiyama Y
Abstract excerpt
Genetic basis of two patients (AT, MT) with ADA deficiency was studied. We identified three novel mutations (119 Q-->Stop, 235 R-->Q, one base deletion in Exon 4) from the patients. 119 Q-->Stop was detected in AT and her father. Deletion of one base in Exon 4 which would change the reading frame after codon 105 H, was detected in MT, her father and brother. There was no relation between the two families,...
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