novelmutation相关论文
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A Novel Nonsense Mutation in MYO6 Is Associated With Progressive Nonsyndromic Hearing Loss in a Chin
Objective: To characterize a Chinese DFNA22 family associated with a novel MYO6 mutation and to confirm the proposed gen......
Objective: 46,XY complete gonadal dysgenesis (46,XY CGD),previous nominated as XY sexreversa,is a rare disorder marked b......
Molecular Diagnosis of a Chinese Pedigree with Alpha-Mannosidosis and Identification of a Novel Miss
Objective The purpose of this study was to research the molecular genetic mechanism of alpha-mannosidosis, to reveal the......
Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H
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目的 对3家拟诊为黏多糖贮积症Ⅵ型(MPSⅥ)的患儿及其父母进行芳香基硫酸酯酶B(ARSB)基因的突变检测,以阐明其分子发病机制并揭示M......
目的 研究黏多糖贮积症ⅣA型(mucopolysaccharidosis type ⅣA,MPS ⅣA)患者发病的分子遗传学机制,揭示其基因型与表现型的相互关......
