A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53

Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene (USP53) causing low-γ-GT (GGT) cholestasis. Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. The proband harbored a novel c....

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Detalles Bibliográficos
Autores principales: Shatokhina, Olga, Semenova, Natalia, Demina, Nina, Dadali, Elena, Polyakov, Alexander, Ryzhkova, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535307/
https://www.ncbi.nlm.nih.gov/pubmed/34681012
http://dx.doi.org/10.3390/genes12101618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535307/
https://www.ncbi.nlm.nih.gov/pubmed/34681012
http://dx.doi.org/10.3390/genes12101618

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