Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu, Yibao; Jia, Jinmeng; Yue, Lishu; Yang, Ruiying; Guo, Yongli; Ni, Xin; Shi, Tieliu

Fu, Yibao; Jia, Jinmeng; Yue, Lishu; Yang, Ruiying; Guo, Yongli; Ni, Xin; Shi, Tieliu.

Afiliação

Fu Y; Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, China.
Jia J; Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, China.
Yue L; Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, China.
Yang R; Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, China.
Guo Y; Big Data and Engineering Research Center, Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, National Center for Children's Health, Beijing Pediatric Research Institute, Capital Medica
Ni X; Biobank for Clinical Data and Samples in Pediatrics, Beijing Children's Hospital, National Center for Children's Health, Beijing Pediatric Research Institute, Capital Medical University, Beijing, China.
Shi T; Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.

Front Pharmacol ; 10: 1018, 2019.

Article em En | MEDLINE | ID: mdl-31572191

Palavras-chave

HMBS gene; PPARA gene; acute intermittent porphyria; genotype and phenotype relationship; hypergeometric test; variation ethnic distribution difference

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Front Pharmacol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China

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