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A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang, Yusi; Hao, Xuguang; Jia, Xueyuan; Ji, Wei; Yuan, Shuai; Gnamey, Estelle Judith Abla; Huang, Min; Xu, Lidan; Zhang, Xuelong; Bai, Jing; Sun, Wenjing; Fu, Songbin; Liu, Yong; Wu, Jie.
Afiliación
  • Wang Y; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
  • Hao X; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Jia X; Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China.
  • Ji W; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
  • Yuan S; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Gnamey EJA; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
  • Huang M; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Xu L; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
  • Zhang X; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Bai J; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
  • Sun W; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Fu S; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
  • Liu Y; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Wu J; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Mol Genet Genomic Med ; 10(7): e1968, 2022 07.
Article en En | MEDLINE | ID: mdl-35546307
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polidactilia / Proteína Gli3 con Dedos de Zinc / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polidactilia / Proteína Gli3 con Dedos de Zinc / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China