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Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
Bolognini, Ramona; Gerth-Kahlert, Christina; Abegg, Mathias; Bartholdi, Deborah; Mathis, Nicolas; Sturm, Veit; Gallati, Sabina; Schaller, André.
Afiliação
  • Bolognini R; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.
  • Gerth-Kahlert C; Graduate School for Cellular and Biomedical Sciences (GCB), University of Bern, Bern, Switzerland.
  • Abegg M; Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
  • Bartholdi D; Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Mathis N; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.
  • Sturm V; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.
  • Gallati S; Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.
  • Schaller A; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.
BMC Med Genet ; 18(1): 22, 2017 02 28.
Article em En | MEDLINE | ID: mdl-28245802
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Precursores de RNA / Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases Limite: Humans Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Precursores de RNA / Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases Limite: Humans Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça