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ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori, Takayasu; Yousefzadeh, Matthew J; Faridounnia, Maryam; Chong, Jessica X; Hisama, Fuki M; Hudgins, Louanne; Mercado, Gabriela; Wade, Erin A; Barghouthy, Amira S; Lee, Lin; Martin, George M; Nickerson, Deborah A; Bamshad, Michael J; Niedernhofer, Laura J; Oshima, Junko.
Afiliação
  • Mori T; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Yousefzadeh MJ; Department of Molecular Medicine, Center on Aging, The Scripps Research Institute, Jupiter, Florida.
  • Faridounnia M; Department of Molecular Medicine, Center on Aging, The Scripps Research Institute, Jupiter, Florida.
  • Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington.
  • Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
  • Mercado G; Institute Nacional de Medicina Genomica, Mexico City, Mexico.
  • Wade EA; Department of Molecular Medicine, Center on Aging, The Scripps Research Institute, Jupiter, Florida.
  • Barghouthy AS; Department of Molecular Medicine, Center on Aging, The Scripps Research Institute, Jupiter, Florida.
  • Lee L; Department of Pathology, University of Washington, Seattle, Washington.
  • Martin GM; Department of Pathology, University of Washington, Seattle, Washington.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington.
  • Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Niedernhofer LJ; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Oshima J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
Hum Mutat ; 39(2): 255-265, 2018 02.
Article em En | MEDLINE | ID: mdl-29105242
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Xeroderma Pigmentoso / Síndrome de Cockayne / Proteínas de Ligação a DNA Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Xeroderma Pigmentoso / Síndrome de Cockayne / Proteínas de Ligação a DNA Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article