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A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.
Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei.
Affiliation
  • Yan X; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai 200031, China.
J Genet Genomics ; 38(12): 585-91, 2011 Dec 20.
Article in En | MEDLINE | ID: mdl-22196401
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Connexins / Microphthalmia-Associated Transcription Factor / Mutation Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: J Genet Genomics Year: 2011 Document type: Article Affiliation country: China Country of publication: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Connexins / Microphthalmia-Associated Transcription Factor / Mutation Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: J Genet Genomics Year: 2011 Document type: Article Affiliation country: China Country of publication: China