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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow, Diane B; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A; Lager, Angela M; Liu, Jixia; Mangels, Rachel; Dwight, Selina S; Wright, Matt W; Dobrowolski, Steven F; Eilbeck, Karen; Enns, Gregory M; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D; Craigen, William J; Mao, Rong.
Afiliação
  • Zastrow DB; Palo Alto Medical Foundation, Palo Alto, California.
  • Baudet H; Stanford University, Stanford, California.
  • Shen W; University of North Carolina, Chapel Hill, North Carolina.
  • Thomas A; ARUP Laboratories, Salt Lake City, Utah.
  • Si Y; University of Utah, Salt Lake City, Utah.
  • Weaver MA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York.
  • Lager AM; GeneDx, Gaithersburg, Maryland.
  • Liu J; American College of Medical Genetics and Genomics, Bethesda, Maryland.
  • Mangels R; Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, Illinois.
  • Dwight SS; Marshfield Clinic Research Institute, Marshfield, Wisconsin.
  • Wright MW; Stanford University, Stanford, California.
  • Dobrowolski SF; Stanford University, Stanford, California.
  • Eilbeck K; Stanford University, Stanford, California.
  • Enns GM; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
  • Feigenbaum A; University of Utah, Salt Lake City, Utah.
  • Lichter-Konecki U; Stanford University, Stanford, California.
  • Lyon E; Rady Children's Hospital and University of California, San Diego, California.
  • Pasquali M; Children's Hospital of Pittsburg of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania.
  • Watson M; ARUP Laboratories, Salt Lake City, Utah.
  • Blau N; University of Utah, Salt Lake City, Utah.
  • Steiner RD; ARUP Laboratories, Salt Lake City, Utah.
  • Craigen WJ; University of Utah, Salt Lake City, Utah.
  • Mao R; American College of Medical Genetics and Genomics, Bethesda, Maryland.
Hum Mutat ; 39(11): 1569-1580, 2018 11.
Article em En | MEDLINE | ID: mdl-30311390
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Genoma Humano / Erros Inatos do Metabolismo Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Genoma Humano / Erros Inatos do Metabolismo Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article