Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)

Severe thrombocytopenia, characterized by dysplastic megakaryocytes and intracranial bleeding, was diagnosed in six individuals from a consanguineous kindred. Three of the individuals were successfully treated by bone marrow transplant. Whole-exome sequencing and homozygosity mapping of multiple fam...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Seo, Aaron, Gulsuner, Suleyman, Pierce, Sarah, Ben-Harosh, Miri, Shalev, Hanna, Walsh, Tom, Krasnov, Tanya, Dgany, Orly, Doulatov, Sergei, Tamary, Hannah, Shimamura, Akiko, King, Mary-Claire
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6298239/
https://ncbi.nlm.nih.gov/pubmed/30247636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy334
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados