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BIBTEX RIS

Genetic and functional insights into CDA-I prevalence and pathogenesis

2020; BMJ; Volume: 58; Issue: 3 Linguagem: Inglês

10.1136/jmedgenet-2020-106880

ISSN

1468-6244

Autores

Aude-Anaïs Olijnik, Noémi Roy, Caroline Scott, Joseph A. Marsh, Jill M. Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J. Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Eva-Lena Maria Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A. Hill, Raffaele Renella, Jim R. Hughes, Richard J. Gibbons, Anja Groth, Peter J. McHugh, Douglas R. Higgs, Veronica J. Buckle, Christian Babbs,

Tópico(s)

Genetics and Neurodevelopmental Disorders

Resumo

Congenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes

Referência(s)