A carregar...
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria
Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder, is due to mutations of uroporphyrinogen III synthase (UROS). Deficiency of UROS results in excess uroporphyrin I, which causes photosensitization. We evaluated a 3-year-old boy with CEP. A hypochromic, microcytic anemia was...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Hematology
2007
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1852202/ https://ncbi.nlm.nih.gov/pubmed/17148589 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-06-022848 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|