A new pathogenic POLG variant.

Nicholas Russo, S; Shah, Ekta G; Copeland, William C; Koenig, Mary Kay

Nicholas Russo, S; Shah, Ekta G; Copeland, William C; Koenig, Mary Kay.

Afiliação

Nicholas Russo S; The University of Texas McGovern Medical School, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX, USA.
Shah EG; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School, Houston, TX, United States of America.
Copeland WC; The University of Texas McGovern Medical School, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX, USA.
Koenig MK; Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Health, Research Triangle Park, NC, USA.

Mol Genet Metab Rep ; 32: 100890, 2022 Sep.

Article em En | MEDLINE | ID: mdl-35860755

Palavras-chave

Alpers-Huttenlocher syndrome; DNA polymerase gamma; Mitochondria; Mitochondrial depletion; POLG syndrome

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article