Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China-Reference-Cited by-同舟云学术

Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China

Published:2011-08 Issue:2 Volume:47 Page:138-139
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Liu Gang,Li Xiaoqing,Shu Huijun,Hu Yu-lin,Anderson Greg,Qian Jiaming,Nie Guangjun

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference7 articles.

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4. A plasma porphyrin fluorescence marker for variegate porphyria;Pohfitzpatrick;Arch. Dermatol.,1980

5. Identification of 5 novel mutations in the porphobilinogen deaminase gene;Mgone;Hum. Mol. Genet.,1994

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1. A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family;Medicine;2018-09

2. Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia;Frontiers in Genetics;2018-04-20

3. Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone;Annals of Human Genetics;2015-03-18

4. Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation;Gene;2013-07