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

Shatokhina, Olga; Semenova, Natalia; Demina, Nina; Dadali, Elena; Polyakov, Alexander; Ryzhkova, Oxana

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

Shatokhina, Olga; Semenova, Natalia; Demina, Nina; Dadali, Elena; Polyakov, Alexander; Ryzhkova, Oxana.

Afiliación

Shatokhina O; Federal State Budgetary Institution "Research Centre For Medical Genetics", 115478 Moscow, Russia.
Semenova N; Federal State Budgetary Institution "Research Centre For Medical Genetics", 115478 Moscow, Russia.
Demina N; Federal State Budgetary Institution "Research Centre For Medical Genetics", 115478 Moscow, Russia.
Dadali E; Federal State Budgetary Institution "Research Centre For Medical Genetics", 115478 Moscow, Russia.
Polyakov A; Federal State Budgetary Institution "Research Centre For Medical Genetics", 115478 Moscow, Russia.
Ryzhkova O; Federal State Budgetary Institution "Research Centre For Medical Genetics", 115478 Moscow, Russia.

Genes (Basel) ; 12(10)2021 10 14.

Article en En | MEDLINE | ID: mdl-34681012

Asunto(s)

Colestasis/genética; Mutación; Proteasas Ubiquitina-Específicas/genética; gamma-Glutamiltransferasa/metabolismo; Preescolar; Colestasis/enzimología; Consanguinidad; Femenino; Humanos; Masculino; Linaje

Palabras clave

USP53; additional clinical signs; low-GGT cholestasis; novel mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colestasis / Proteasas Ubiquitina-Específicas / Gamma-Glutamiltransferasa / Mutación Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza

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