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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Autori principali: Parera, Victoria E, Koole, Rita H, Minderman, Gardi, Edixhoven, Annie, Rossetti, Maria V, Batlle, Alcira, de Rooij, Felix WM
Natura: Artigo
Lingua:Inglês
Pubblicazione: ScholarOne 2009
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Article
Accesso online: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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