Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

Zaum, Ann-Kathrin; Stüve, Burkhard; Gehrig, Andrea; Kölbel, Heike; Schara, Ulrike; Kress, Wolfram; Rost, Simone

Zaum, Ann-Kathrin; Stüve, Burkhard; Gehrig, Andrea; Kölbel, Heike; Schara, Ulrike; Kress, Wolfram; Rost, Simone.

Afiliação

Zaum AK; Department of Human Genetics, University of Würzburg, Biozentrum Am Hubland, 97074 Würzburg, Germany. Electronic address: ann-kathrin.zaum@uni-wuerzburg.de.
Stüve B; Children's Hospital Cologne, Amsterdamerstraße 59, 50735 Cologne, Germany.
Gehrig A; Department of Human Genetics, University of Würzburg, Biozentrum Am Hubland, 97074 Würzburg, Germany.
Kölbel H; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany.
Schara U; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany.
Kress W; Department of Human Genetics, University of Würzburg, Biozentrum Am Hubland, 97074 Würzburg, Germany.
Rost S; Department of Human Genetics, University of Würzburg, Biozentrum Am Hubland, 97074 Würzburg, Germany.

Neuromuscul Disord ; 27(7): 631-634, 2017 Jul.

Article em En | MEDLINE | ID: mdl-28495050

Assuntos

Distrofina/genética; Íntrons/genética; Distrofias Musculares/genética; Distrofias Musculares/patologia; Mutação/genética; Adolescente; Análise Mutacional de DNA; Humanos; Masculino

Palavras-chave

DMD; Deep intronic variants; Pseudoexon

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Íntrons / Distrofina / Distrofias Musculares / Mutação Limite: Adolescent / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article

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