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.

Affiliation

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 in En | MEDLINE | ID: mdl-25787008

Subject(s)

Hydroxymethylbilane Synthase/genetics; Porphyria, Acute Intermittent/genetics; Adult; Asian People/genetics; Female; Humans; Inappropriate ADH Syndrome/genetics; Middle Aged; Porphyria, Acute Intermittent/diagnosis; Young Adult

Key words

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

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hydroxymethylbilane Synthase / Porphyria, Acute Intermittent Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Middle aged Language: En Journal: Ann Hum Genet Year: 2015 Document type: Article

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google