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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Sharma, Prashant; Reichert, Marie; Lu, Yan; Markello, Thomas C; Adams, David R; Steinbach, Peter J; Fuqua, Brie K; Parisi, Xenia; Kaler, Stephen G; Vulpe, Christopher D; Anderson, Gregory J; Gahl, William A; Malicdan, May Christine V.
Afiliação
  • Sharma P; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Reichert M; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Lu Y; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Markello TC; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Adams DR; Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Steinbach PJ; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Fuqua BK; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Parisi X; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Bethesda, Maryland, United States of America.
  • Kaler SG; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Vulpe CD; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Anderson GJ; Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, Maryland, United States of America.
  • Gahl WA; Department of Medicine, University of California, Los Angeles, United States of America.
  • Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
PLoS Genet ; 15(5): e1008143, 2019 05.
Article em En | MEDLINE | ID: mdl-31125343
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos