Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.

Li, Yingjie; Qu, Hua; Wang, Hang; Deng, Huacong; Liu, Ziyan

Li, Yingjie; Qu, Hua; Wang, Hang; Deng, Huacong; Liu, Ziyan.

Afiliação

Li Y; Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University.
Qu H; Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University.
Wang H; Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University.
Deng H; Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University.
Liu Z; Clinical Laboratory, Guiyang Provincial People's Hospital, 55002, Guiyang, Guizhou Province, China.

Ann Hum Genet ; 79(4): 310-2, 2015 Jul.

Article em En | MEDLINE | ID: mdl-25787008

Assuntos

Hidroximetilbilano Sintase/genética; Porfiria Aguda Intermitente/genética; Adulto; Povo Asiático/genética; Feminino; Humanos; Síndrome de Secreção Inadequada de HAD/genética; Pessoa de Meia-Idade; Porfiria Aguda Intermitente/diagnóstico; Adulto Jovem

Palavras-chave

Acute intermittent porphyria; Chinese; HMBS; syndrome of inappropriate antidiuretic hormone

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidroximetilbilano Sintase / Porfiria Aguda Intermitente Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Ann Hum Genet Ano de publicação: 2015 Tipo de documento: Article

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