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...

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Bibliografiske detaljer
Udgivet i:Clin Genet
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang: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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