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-Reference-Cited by-同舟云学术

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

Published:2018-04-20 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Zheng Yongjiang,Xu Jiehua,Liang Shengran,Lin Dongjun,Banerjee Santasree

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference10 articles.

1. Recommendations for the diagnosis and treatment of the acute porphyrias.;Anderson;Ann. Intern. Med.,2005

2. The porphyrias: advances in diagnosis and treatment.;Balwani;Blood,2012

3. Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report.;Dos Santos;An. Acad. Bras. Cienc.,2013

4. May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.;Hrdinka;Physiol. Res.,2006

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

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