Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone-Reference-Cited by-同舟云学术

Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone

Published:2015-03-18 Issue:4 Volume:79 Page:310-312
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Li Yingjie¹,Qu Hua¹,Wang Hang¹,Deng Huacong¹,Liu Ziyan²

Affiliation:

1. Department of Endocrinology; the First Affiliated Hospital of Chongqing Medical University

2. Clinical Laboratory; Guiyang Provincial People's Hospital; 55002 Guiyang Guizhou Province China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12107/fullpdf

Reference14 articles.

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3. Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation;Kong;Gene,2013

4. Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China;Liu;Blood Cells, Mol Dis,2011

5. Intermittent acute porphyria-demonstration of a genetic defect in porphobilinogen metabolism;Meyer;N Engl J Med,1972

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