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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...
Sparad:
| I publikationen: | Mol Genet Metab |
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| Huvudupphovsmän: | , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2018
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| Ämnen: | |
| Länkar: | 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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