VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

Autor:	Frédéric Galactéros, Catherine Garel, Arnaud Petit, Pablo Bartolucci, Benoît Funalot, Lydie Burglen, Virginie Saillour, Lamisse Mansour-Hendili, Abdelrazak Aissat, Leila Qebibo, Ariane Lunati, Christine Gameiro, Diane Doummar, Pascale Fanen, Hélène Lapillonne
Rok vydání:	2021
Předmět:	Whole genome sequencing medicine.diagnostic_test business.industry Anemia Magnetic resonance imaging Heterozygote advantage Hematology medicine.disease Bioinformatics Reticulocyte count Mutation (genetic algorithm) medicine Missense mutation business Congenital hemolytic anemia
Zdroj:	American Journal of Hematology. 96
ISSN:	1096-8652 0361-8609
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::86f0866de167141775d56a0b71c99eb8 https://doi.org/10.1002/ajh.26099 Zobrazit plný text záznamu Plný text