X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria

X-linked protoporphyria (XLP), a rare erythropoietic porphyria, results from terminal exon gain-of-function mutations in the ALAS2 gene causing increased ALAS2 activity and markedly increased erythrocyte protoporphyrin levels. Patients present with severe cutaneous photosensitivity and may develop l...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Genet
Prif Awduron: Brancaleoni, V., Balwani, M., Granata, F., Graziadei, G., Missineo, P., Fiorentino, V., Fustinoni, S., Cappellini, M.D., Naik, H., Desnick, R.J., Di Pierro, E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4512933/
https://ncbi.nlm.nih.gov/pubmed/25615817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12562
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