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‐...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Lin, Pei‐Chin, Cheng, Chao‐Neng, Huang, Hsi‐Yuan, Tseng, Yu‐Hsin, Chang, Ya‐Sian, Lin, Chien‐Yu, Chang, Jan‐Gowth
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Articles
Accès en ligne: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
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