Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis

Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma‐glutamyltransferase (GGT) cholestasis. Here, we report whole‐exome sequencing of germline DNA from 2 unrelated children, both offspring of consanguineous union, with neonatal cholestas...

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Detalles Bibliográficos
Autores principales: Ünlüsoy Aksu, Aysel, Das, Subhash K., Nelson‐Williams, Carol, Jain, Dhanpat, Özbay Hoşnut, Ferda, Evirgen Şahin, Gülseren, Lifton, Richard P., Vilarinho, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442693/
https://www.ncbi.nlm.nih.gov/pubmed/30976738
http://dx.doi.org/10.1002/hep4.1320

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