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Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Wooderchak-Donahue, Whitney L; McDonald, Jamie; Farrell, Andrew; Akay, Gulsen; Velinder, Matt; Johnson, Peter; VanSant-Webb, Chad; Margraf, Rebecca; Briggs, Eric; Whitehead, Kevin J; Thomson, Jennifer; Lin, Angela E; Pyeritz, Reed E; Marth, Gabor; Bayrak-Toydemir, Pinar.
Afiliación
  • Wooderchak-Donahue WL; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, Salt Lake City, USA.
  • McDonald J; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Farrell A; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Akay G; HHT Center, Department of Radiology, University of Utah, Salt Lake City, Utah, USA.
  • Velinder M; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA.
  • Johnson P; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, Salt Lake City, USA.
  • VanSant-Webb C; Department of Pediatric Genetics, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
  • Margraf R; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA.
  • Briggs E; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, Salt Lake City, USA.
  • Whitehead KJ; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, Salt Lake City, USA.
  • Thomson J; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, Salt Lake City, USA.
  • Lin AE; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, Salt Lake City, USA.
  • Pyeritz RE; HHT Center, Department of Radiology, University of Utah, Salt Lake City, Utah, USA.
  • Marth G; Division of Cardiovascular Medicine, Department of Medicine, University of Utah, Salt Lake City, Utah, USA.
  • Bayrak-Toydemir P; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
J Med Genet ; 55(12): 824-830, 2018 12.
Article en En | MEDLINE | ID: mdl-30244195
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia Hemorrágica Hereditaria / Intrones / Empalme del ARN / Genómica / Receptores de Activinas Tipo II / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia Hemorrágica Hereditaria / Intrones / Empalme del ARN / Genómica / Receptores de Activinas Tipo II / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos