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

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

Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinica...

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Bibliographic Details
Main Authors: Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Genetics
Subjects:
acute intermittent porphyria
HMBS gene
heme biosynthetic enzyme
novel mutation
heterozygous
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00129/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00129/full

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