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Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Peng, Ying; Yang, Shuting; Xi, Hui; Hu, Jiancheng; Jia, Zhengjun; Pang, Jialun; Liu, Jing; Yu, Wenxian; Tang, Chengyuan; Wang, Hua.
Afiliación
  • Peng Y; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Yang S; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Xi H; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Hu J; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Jia Z; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Pang J; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Liu J; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Yu W; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
  • Tang C; Department of Nephrology, Hunan Key Laboratory of Kidney Disease and Blood Purification, The Second Xiangya Hospital, Central South University, Changsha, China.
  • Wang H; Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects Research, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
Mol Genet Genomic Med ; 9(3): e1604, 2021 03.
Article en En | MEDLINE | ID: mdl-33471964
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Deformidades Congénitas del Pie / Deformidades Congénitas de la Mano / Proteínas Supresoras de Tumor Tipo de estudio: Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Deformidades Congénitas del Pie / Deformidades Congénitas de la Mano / Proteínas Supresoras de Tumor Tipo de estudio: Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos