Výsledky vyhledávání - "HOMOZYGOUS AND DOUBLE HETEROZYGOUS LEVEL"

A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)--Asn) in the factor X gene. A study of an Italian family

Autor: Simioni, P., Vianello, F., Kalafatis, M., Barzon, L., Ladogana, S., Paolucci, Paolo, Carotenuto, M., DAL BELLO, F., Palu', G., Girolami, A.

Publikováno v: Thrombosis research. 101(4)

Low levels of factor X (F.X) were detected in a 4-year-old boy who experienced acute lymphoblastic leukemia and bleeding manifestations. Laboratory data suggested the presence of a dysfunctional F.X molecule. Two novel F.X gene mutations were identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8a6f2e6b642f61ae3ceda86e65137ecf
https://pubmed.ncbi.nlm.nih.gov/11248282

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání