Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which decreased activity of ferrochelatase (FECH) leads to accumulation of protoporphyrin IX (PP IX) in red blood cells, plasma, liver, and bile, and increased PP IX excretion in feces. Clinically, EPP is charact...

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Hlavní autoři: Parera, Victoria E, Koole, Rita H, Minderman, Gardi, Edixhoven, Annie, Rossetti, Maria V, Batlle, Alcira, de Rooij, Felix WM
Médium: Artigo
Jazyk:Inglês
Vydáno: ScholarOne 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2729100/
https://ncbi.nlm.nih.gov/pubmed/19693296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2009.00006
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