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Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.
McCammon, Karen M; Panda, Satya P; Xia, Chuanwu; Kim, Jung-Ja P; Moutinho, Daniela; Kranendonk, Michel; Auchus, Richard J; Lafer, Eileen M; Ghosh, Debashis; Martasek, Pavel; Kar, Rekha; Masters, Bettie Sue; Roman, Linda J.
Afiliação
  • McCammon KM; From the Department of Biochemistry, University of Texas Health Science Center, San Antonio, Texas 78229.
  • Panda SP; From the Department of Biochemistry, University of Texas Health Science Center, San Antonio, Texas 78229.
  • Xia C; the Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin 53226.
  • Kim JJ; the Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin 53226.
  • Moutinho D; the Centre for Toxicogenomics and Human Health (ToxOmics), Genetics, Oncology and Human Toxicology, NOVA Medical School/FCM, Universidade Nova de Lisboa, Campo dos Mártires da Pátria, 130, 1169-056 Lisboa, Portugal.
  • Kranendonk M; the Centre for Toxicogenomics and Human Health (ToxOmics), Genetics, Oncology and Human Toxicology, NOVA Medical School/FCM, Universidade Nova de Lisboa, Campo dos Mártires da Pátria, 130, 1169-056 Lisboa, Portugal.
  • Auchus RJ; the Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109.
  • Lafer EM; From the Department of Biochemistry, University of Texas Health Science Center, San Antonio, Texas 78229.
  • Ghosh D; the Department of Pharmacology, State University of New York Upstate Medical University, Syracuse, New York 13210, and.
  • Martasek P; the Department of Pediatrics, First Faculty of Medicine, Charles University in Prague and General University Hospital, 116 36 Prague 1, Czech Republic.
  • Kar R; From the Department of Biochemistry, University of Texas Health Science Center, San Antonio, Texas 78229.
  • Masters BS; From the Department of Biochemistry, University of Texas Health Science Center, San Antonio, Texas 78229, bettie.sue.masters@duke.edu.
  • Roman LJ; From the Department of Biochemistry, University of Texas Health Science Center, San Antonio, Texas 78229, roman@uthscsa.edu.
J Biol Chem ; 291(39): 20487-502, 2016 09 23.
Article em En | MEDLINE | ID: mdl-27496950

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Sistema Enzimático do Citocromo P-450 / Fenótipo de Síndrome de Antley-Bixler Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Sistema Enzimático do Citocromo P-450 / Fenótipo de Síndrome de Antley-Bixler Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article