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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Chen, Brenden; Solis-Villa, Constanza; Hakenberg, Jörg; Qiao, Wanqiong; Srinivasan, Ramakrishnan R; Yasuda, Makiko; Balwani, Manisha; Doheny, Dana; Peter, Inga; Chen, Rong; Desnick, Robert J.
Afiliação
  • Chen B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Solis-Villa C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Hakenberg J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Qiao W; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Srinivasan RR; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Yasuda M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Balwani M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Doheny D; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Peter I; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Chen R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York. robert.desnick@mssm.edu.
Hum Mutat ; 37(11): 1215-1222, 2016 11.
Article em En | MEDLINE | ID: mdl-27539938
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Porfiria Aguda Intermitente / Penetrância / População Branca Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Porfiria Aguda Intermitente / Penetrância / População Branca Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article