MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.

Wang, Li; Qiu, Yi-Ling; Xu, Hong-Mei; Zhu, Jing; Li, Shuang-Jie; OuYang, Wen-Xian; Yang, Yong-Feng; Lu, Yi; Xie, Xin-Bao; Xing, Qing-He; Wang, Jian-She

Wang, Li; Qiu, Yi-Ling; Xu, Hong-Mei; Zhu, Jing; Li, Shuang-Jie; OuYang, Wen-Xian; Yang, Yong-Feng; Lu, Yi; Xie, Xin-Bao; Xing, Qing-He; Wang, Jian-She.

Afiliación

Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Qiu YL; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xu HM; Department of Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhu J; Department of Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, China.
Li SJ; Department of Hepatopathy, Hunan Children's Hospital, Changsha, China.
OuYang WX; Department of Hepatopathy, Hunan Children's Hospital, Changsha, China.
Yang YF; Department of Hepatology, The Second Hospital of Nanjing, Nanjing, China.
Lu Y; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xie XB; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xing QH; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Liver Int ; 42(2): 402-411, 2022 02.

Article en En | MEDLINE | ID: mdl-34811877

Asunto(s)

Colestasis Intrahepática/genética; Mucolipidosis; Cadenas Pesadas de Miosina; Miosina Tipo V; Estudios de Asociación Genética; Humanos; Hígado/patología; Mucolipidosis/genética; Mucolipidosis/patología; Mutación; Cadenas Pesadas de Miosina/genética; Miosina Tipo V/genética

Palabras clave

MYO5B; cholestasis; familial intrahepatic cholestasis; genotype-phenotype correlation; microvillus inclusion disease

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Colestasis Intrahepática / Cadenas Pesadas de Miosina / Miosina Tipo V / Mucolipidosis Tipo de estudio: Risk_factors_studies Idioma: En Revista: Liver Int Asunto de la revista: GASTROENTEROLOGIA Año: 2022 Tipo del documento: Article

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