Article
Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2000
Chuong Ho Quoc, Xinh Phan Thi, Tram Duong Bich, Ha Nguyen Thi Thanh, Nguyen Tuan Minh, Anh Phan Nguyen Lien, Van Nguyen Dinh, Anh Nguyen Hoang Mai, Dung Phu Chi, Nghia Huynh, Vu Hoang Anh
Abstract excerpt
BACKGROUND: WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott-Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported. METHODS: We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology. RESULTS: We identified 36 distinct hemizygous pathogenic mutations, with 17 novel...
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