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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associat...
Aldrian, Denise; Vogel, Georg F.; Frey, Teresa K.; Ayyıldız Civan, Hasret; Aksu, Aysel Ünlüsoy; Avitzur, Yaron; Ramos Boluda, Esther; Çakır, MuratMyosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal...
Data: 2021
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Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)