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A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Sorte, Hanne S; Osnes, Liv T; Fevang, Børre; Aukrust, Pål; Erichsen, Hans C; Backe, Paul H; Abrahamsen, Tore G; Kittang, Ole B; Øverland, Torstein; Jhangiani, Shalini N; Muzny, Donna M; Vigeland, Magnus D; Samarakoon, Pubudu; Gambin, Tomasz; Akdemir, Zeynep H C; Gibbs, Richard A; Rødningen, Olaug K; Lyle, Robert; Lupski, James R; Stray-Pedersen, Asbjørg.
Afiliação
  • Sorte HS; Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway.
  • Osnes LT; Department of Immunology Oslo University Hospital Oslo Norway.
  • Fevang B; Institute of Clinical MedicineUniversity of OsloOsloNorway; Section of Clinical Immunology and Infectious DiseasesOslo University HospitalOsloNorway; Research Institute of Internal MedicineOslo University HospitalOsloNorway.
  • Aukrust P; Institute of Clinical MedicineUniversity of OsloOsloNorway; Section of Clinical Immunology and Infectious DiseasesOslo University HospitalOsloNorway; Research Institute of Internal MedicineOslo University HospitalOsloNorway.
  • Erichsen HC; Department of Pediatrics Oslo University Hospital Oslo Norway.
  • Backe PH; Department of Medical BiochemistryInstitute of Clinical MedicineUniversity of OsloOsloNorway; Department of MicrobiologyOslo University HospitalOsloNorway.
  • Abrahamsen TG; Institute of Clinical MedicineUniversity of OsloOsloNorway; Department of PediatricsOslo University HospitalOsloNorway.
  • Kittang OB; Department of Pediatrics Sørlandet Hospital Kristiansand Norway.
  • Øverland T; Department of Pediatrics Oslo University Hospital Oslo Norway.
  • Jhangiani SN; Human Genome Sequencing Center of Baylor College of Medicine Houston Texas.
  • Muzny DM; Human Genome Sequencing Center of Baylor College of Medicine Houston Texas.
  • Vigeland MD; Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway.
  • Samarakoon P; Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway.
  • Gambin T; Institute of computer scienceWarsaw University of TechnologyWarsawPoland; Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas.
  • Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Human Genome Sequencing Center of Baylor College of MedicineHoustonTexas; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas.
  • Rødningen OK; Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway.
  • Lyle R; Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway.
  • Lupski JR; Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Human Genome Sequencing Center of Baylor College of MedicineHoustonTexas; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; De
  • Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics (BHCMG) of the Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Norwegian National Unit for Newborn ScreeningDivision of Children and Adolescent MedicineOslo University HospitalOsloNorway.
Mol Genet Genomic Med ; 4(6): 604-616, 2016 Nov.
Article em En | MEDLINE | ID: mdl-27896283
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article