Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome
Tóm tắt
We recruited 97 male, unrelated patients with WAS and analyzed
We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.
Our data enrich the mutational spectrum of the
Từ khóa
Tài liệu tham khảo
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