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A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha, Thuong T; Sadleir, Lynette G; Mandelstam, Simone A; Paterson, Sarah J; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A.
Afiliación
  • Ha TT; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
  • Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand.
  • Mandelstam SA; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Paterson SJ; Department of Radiology, University of Melbourne, Royal Children's Hospital Parkville, Melbourne, Victoria, Australia.
  • Scheffer IE; Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.
  • Gecz J; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand.
  • Corbett MA; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
Am J Med Genet A ; 170A(4): 1059-63, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26708157
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Colágeno Tipo IV / Porencefalia / Genes Dominantes / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Colágeno Tipo IV / Porencefalia / Genes Dominantes / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Australia