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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Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Zheng, Yongjiang, Xu, Jiehua, Liang, Shengran, Lin, Dongjun, Banerjee, Santasree
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2018
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5920022/
https://ncbi.nlm.nih.gov/pubmed/29731767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00129
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