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Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Chen, Brenden; Solis-Villa, Constanza; Erwin, Angelika L; Balwani, Manisha; Nazarenko, Irina; Phillips, John D; Desnick, Robert J; Yasuda, Makiko.
Afiliação
  • Chen B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
  • Solis-Villa C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
  • Erwin AL; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
  • Balwani M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
  • Nazarenko I; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
  • Phillips JD; Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
  • Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
  • Yasuda M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.
J Inherit Metab Dis ; 42(1): 186-194, 2019 01.
Article em En | MEDLINE | ID: mdl-30740734
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidroximetilbilano Sintase / Porfiria Aguda Intermitente / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidroximetilbilano Sintase / Porfiria Aguda Intermitente / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos