医学
Xq28型
疾病
基因
突变
遗传学
基因突变
内科学
X染色体
生物
作者
A. M. Cantlay,Kayvan Shokrollahi,John T. Allen,Peter Lunt,Ruth Newbury‐Ecob,Colin G. Steward
标识
DOI:10.1016/s0022-3476(99)70126-5
摘要
Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the cardinal features of this syndrome, and mutations of G4.5 were found in each case. A mutation was also found in a fifth family with an extensive history of early infant death from heart disease. The recognition of 5 unrelated families in 1 hospital during a 7-year period suggests that this disease may be underdiagnosed.
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