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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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| Published in: | Front Genet |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Frontiers Media S.A.
2018
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| Subjects: | |
| Online Access: | 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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