Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Gemperle, Corinne; Fingerhut, Ralph; Häberle, Johannes

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Gemperle, Corinne; Fingerhut, Ralph; Häberle, Johannes.

Afiliação

Diez-Fernandez C; University Children's Hospital Zurich, Division of Metabolism and Children's Research Center, Zurich, Switzerland.
Rüfenacht V; University Children's Hospital Zurich, Division of Metabolism and Children's Research Center, Zurich, Switzerland.
Gemperle C; University Children's Hospital Zurich, Division of Metabolism and Children's Research Center, Zurich, Switzerland.
Fingerhut R; University Children's Hospital Zurich, Division of Metabolism and Children's Research Center, Zurich, Switzerland.
Häberle J; University Children's Hospital Zurich, Division of Metabolism and Children's Research Center, Zurich, Switzerland.

Hum Mutat ; 39(8): 1029-1050, 2018 08.

Article em En | MEDLINE | ID: mdl-29726057

Assuntos

Arginase/genética; Mutação/genética; Brasil; China; Códon sem Sentido/genética; Humanos; Mutação de Sentido Incorreto/genética; Turquia

Palavras-chave

arginase 1 deficiency; argininemia; spastic paraparesis; urea cycle disorder

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arginase / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: America do sul / Asia / Brasil Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça

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