Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.

Kurtz, Justin; Fernandes, Joseph Americo; Mansukhani, Mahesh; Copeland, William C; Naini, Ali B

Kurtz, Justin; Fernandes, Joseph Americo; Mansukhani, Mahesh; Copeland, William C; Naini, Ali B.

Afiliação

Kurtz J; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.
Fernandes JA; Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.
Mansukhani M; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.
Copeland WC; Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences (NIEHS), NIH, Research Triangle Park, NC 27709, USA.
Naini AB; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, 630 W. 168th Street, New York, NY 10032, USA.

Case Rep Genet ; 2021: 9969071, 2021.

Article em En | MEDLINE | ID: mdl-34777884

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo

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PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos