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Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang, Fan; Sun, Huaqin; Yang, Yanting; Wang, Yanan; Dai, Siyu; Lin, Ziyuan; Shen, Ying; Liu, Hongqian.
Afiliación
  • Yang F; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.
  • Sun H; Medical Genetics Department/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
  • Yang Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan University, Chengdu, China.
  • Wang Y; Medical Genetics/Prenatal Diagnostic Department, Luoyang Maternal and Child Health Hospital, Henan University, Luoyang, China.
  • Dai S; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan University, Chengdu, China.
  • Lin Z; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China.
  • Shen Y; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.
  • Liu H; Medical Genetics Department/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Clin Genet ; 103(5): 596-602, 2023 05.
Article en En | MEDLINE | ID: mdl-36650939
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ARN Polimerasa III / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ARN Polimerasa III / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: China