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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
Barington, Maria; Dunø, Morten; Birkedal, Ulf; Vissing, John; Born, Alfred Peter; Krag, Thomas; Hansen, Thomas van Overeem; Østergaard, Elsebet.
Afiliação
  • Barington M; Department of Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: maria.barington.afzelius@regionh.dk.
  • Dunø M; Department of Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Birkedal U; Department of Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Born AP; Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Krag T; Copenhagen Neuromuscular Center, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Hansen TVO; Department of Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark.
  • Østergaard E; Department of Genetics, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark.
Neuromuscul Disord ; 33(7): 539-545, 2023 07.
Article em En | MEDLINE | ID: mdl-37315421
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Colágeno Tipo VI / Distrofias Musculares Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Colágeno Tipo VI / Distrofias Musculares Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article