Carregant...
Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing
BACKGROUND: Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations. METHODS: Whole exome sequencing was applied for the genetic diagnosis of a 12‐...
Guardat en:
| Publicat a: | Mol Genet Genomic Med |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2020
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216794/ https://ncbi.nlm.nih.gov/pubmed/32160409 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1220 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|