Načítá se...
Congenital Erythropoietic Porphyria: Recent Advances
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with...
Uloženo v:
| Vydáno v: | Mol Genet Metab |
|---|---|
| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2018
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6597325/ https://ncbi.nlm.nih.gov/pubmed/30685241 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.12.008 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|