First Description of Inheritance of a Postzygotic <i>OPA1</i> Mosaic Variant.

Alter, Svenja; Farassat, Navid; Küchlin, Sebastian; Lagrèze, Wolf A; Fischer, Judith

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.

Alter, Svenja; Farassat, Navid; Küchlin, Sebastian; Lagrèze, Wolf A; Fischer, Judith.

Afiliação

Alter S; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Farassat N; Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Küchlin S; Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Lagrèze WA; Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Fischer J; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

Genes (Basel) ; 13(3)2022 03 08.

Article em En | MEDLINE | ID: mdl-35328032

Assuntos

Atrofia Óptica Autossômica Dominante; Atrofia Óptica; Criança; Dinaminas/genética; GTP Fosfo-Hidrolases/genética; Humanos; Masculino; Mutação de Sentido Incorreto; Atrofia Óptica/patologia; Atrofia Óptica Autossômica Dominante/genética; Atrofia Óptica Autossômica Dominante/patologia

Palavras-chave

ADOA; OPA1; optic atrophy; postzygotic mosaic

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Atrofia Óptica Autossômica Dominante Limite: Child / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google