Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a pati...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Frank, J, Lam, H, Zaider, E, Poh-Fitzpatrick, M, Christiano, A M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1998
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051251/
https://ncbi.nlm.nih.gov/pubmed/9541112
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