Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

Hereditary cholestasis in childhood and infancy with normal serum gamma‐glutamyltransferase (GGT) activity is linked to several genes. Many patients, however, remain genetically undiagnosed. Defects in myosin VB (MYO5B; encoded by MYO5B) cause microvillus inclusion disease (MVID; MIM251850) with rec...

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Библиографические подробности
Опубликовано в: :Hepatology
Главные авторы: Qiu, Yi‐Ling, Gong, Jing‐Yu, Feng, Jia‐Yan, Wang, Ren‐Xue, Han, Jun, Liu, Teng, Lu, Yi, Li, Li‐Ting, Zhang, Mei‐Hong, Sheps, Jonathan A., Wang, Neng‐Li, Yan, Yan‐Yan, Li, Jia‐Qi, Chen, Lian, Borchers, Christoph H., Sipos, Bence, Knisely, A.S., Ling, Victor, Xing, Qing‐He, Wang, Jian‐She
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2017
Предметы:
Autoimmune, Cholestatic and Biliary Disease
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413810/
https://ncbi.nlm.nih.gov/pubmed/28027573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.29020
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