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NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao, Yuanyuan; Zhou, Cong; Xie, Hanbing; Huang, Shuang; Wang, Jing; Liu, Shanling.
Afiliación
  • Xiao Y; Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.
  • Zhou C; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, China.
  • Xie H; Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.
  • Huang S; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, China.
  • Wang J; Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.
  • Liu S; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, China.
BMC Genomics ; 23(1): 332, 2022 Apr 29.
Article en En | MEDLINE | ID: mdl-35488210
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Albinismo Oculocutáneo Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: BMC Genomics Asunto de la revista: GENETICA 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: Proteínas de Transporte de Membrana / Albinismo Oculocutáneo Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: BMC Genomics Asunto de la revista: GENETICA Año: 2022 Tipo del documento: Article País de afiliación: China