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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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| Publicado no: | Clin Genet |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | 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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