The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Hong, Jie; Zhang, Yu-Wen; Zhang, Hui-Jie; Jia, Hui-Ying; Zhang, Yu; Ding, Xiao-Yi; Zhou, Dan-Yang; Chen, Hui-Ping; Jiang, Xiao-Hua; Cui, Bin; Li, Xiao-Ying; Ning, Guang

Hong, Jie; Zhang, Yu-Wen; Zhang, Hui-Jie; Jia, Hui-Ying; Zhang, Yu; Ding, Xiao-Yi; Zhou, Dan-Yang; Chen, Hui-Ping; Jiang, Xiao-Hua; Cui, Bin; Li, Xiao-Ying; Ning, Guang.

Affiliation

Hong J; Department of Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Shanghai JiaoTong University School of Medicine, Shanghai, 200025, People's Republic of China.

Endocrine ; 35(2): 151-7, 2009 Apr.

Article in En | MEDLINE | ID: mdl-19160074

Subject(s)

Membrane Proteins/genetics; Mutation/genetics; Wolfram Syndrome/genetics; Adolescent; Atrophy; Base Sequence; China; Diabetes Insipidus/diagnosis; Diabetes Insipidus/genetics; Diabetes Mellitus, Type 1/diagnosis; Diabetes Mellitus, Type 1/genetics; Exons/genetics; Female; Gene Deletion; Heterozygote; Humans; Magnetic Resonance Imaging; Molecular Sequence Data; Optic Nerve/pathology; Pedigree; Point Mutation/genetics; Polymerase Chain Reaction; Wolfram Syndrome/diagnosis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wolfram Syndrome / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Female / Humans Country/Region as subject: Asia Language: En Journal: Endocrine Journal subject: ENDOCRINOLOGIA Year: 2009 Document type: Article Country of publication: United States

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