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Recent Advances on Porphyria Genetics: Inheritance, Penetrance & Molecular Heterogeneity, Including New Modifying/Causative Genes

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic genes. The major sites of heme biosynthesis are the liver and erythron, and the underlying pathophysi...

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書目詳細資料
發表在:Mol Genet Metab
Main Authors: Yasuda, Makiko, Chen, Brenden, Desnick, Robert J.
格式: Artigo
語言:Inglês
出版: 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6542720/
https://ncbi.nlm.nih.gov/pubmed/30594473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.11.012
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