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Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
Boone, Philip M; Yuan, Bo; Gu, Shen; Ma, Zhiwei; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Jain, Mahim; Murdock, Todd J; White, Janson J; Jhangiani, Shalini N; Walker, Kimberly; Wang, Qiaoyan; Muzny, Donna M; Gibbs, Richard A; Hejtmancik, J Fielding; Lupski, James R; Posey, Jennifer E; Lewis, Richard A.
Afiliação
  • Boone PM; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Yuan B; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Gu S; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Ma Z; Ophthalmic Genetics and Visual Function Branch National Eye Institute Rockville Maryland.
  • Gambin T; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Gonzaga-Jauregui C; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Jain M; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Murdock TJ; Rocky Mountain Eye Center Missoula Montana.
  • White JJ; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Jhangiani SN; Human Genome Sequencing Center Baylor College of Medicine Houston Texas.
  • Walker K; Human Genome Sequencing Center Baylor College of Medicine Houston Texas.
  • Wang Q; Human Genome Sequencing Center Baylor College of Medicine Houston Texas.
  • Muzny DM; Human Genome Sequencing Center Baylor College of Medicine Houston Texas.
  • Gibbs RA; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Human Genome Sequencing CenterBaylor College of MedicineHoustonTexas.
  • Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch National Eye Institute Rockville Maryland.
  • Lupski JR; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Human Genome Sequencing CenterBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Texas Children's HospitalHoustonTexas.
  • Posey JE; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Lewis RA; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Texas Children's HospitalHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of Medicine
Mol Genet Genomic Med ; 4(1): 77-94, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26788539
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos