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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Autoimmune, Cholestatic and Biliary Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413810/
https://www.ncbi.nlm.nih.gov/pubmed/28027573
http://dx.doi.org/10.1002/hep.29020

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