Your browser doesn't support javascript.
loading
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
Scott, Alan F; Mohr, David W; Kasch, Laura M; Barton, Jill A; Pittiglio, Raquel; Ingersoll, Roxann; Craig, Brian; Marosy, Beth A; Doheny, Kimberly F; Bromley, William C; Roderick, Thomas H; Chassaing, Nicolas; Calvas, Patrick; Prabhu, Shreya S; Jabs, Ethylin Wang.
Afiliação
  • Scott AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Mohr DW; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Kasch LM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Barton JA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Pittiglio R; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Ingersoll R; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Craig B; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Marosy BA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Doheny KF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Bromley WC; The Jackson Laboratory, Center for Human Genetics, Bar Harbor, Maine.
  • Roderick TH; The Jackson Laboratory, Center for Human Genetics, Bar Harbor, Maine.
  • Chassaing N; CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Université Paul-Sabatier Toulouse III, Toulouse, France.
  • Calvas P; CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Université Paul-Sabatier Toulouse III, Toulouse, France.
  • Prabhu SS; Icahn School of Medicine at Mount Sinai, New York, New York.
  • Jabs EW; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland4Icahn School of Medicine at Mount Sinai, New York, New York.
JAMA Ophthalmol ; 132(10): 1215-20, 2014 Oct.
Article em En | MEDLINE | ID: mdl-24993872
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coloboma / Microftalmia / Mutação da Fase de Leitura / Proteína HMGB3 / Doenças Genéticas Ligadas ao Cromossomo X Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: JAMA Ophthalmol Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coloboma / Microftalmia / Mutação da Fase de Leitura / Proteína HMGB3 / Doenças Genéticas Ligadas ao Cromossomo X Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: JAMA Ophthalmol Ano de publicação: 2014 Tipo de documento: Article