Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln.

CONCLUSIONS: The identical defect which presented in the propositaand her mother could be explained by the genetic analysis of the father and maternal grandfather of the proposita who happened to have the same mutation (Arg413Gln). PMID: 32396910 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32396910?dopt=Abstract

Source: Acta Haematologica - May 11, 2020 Category: Hematology Authors: Girolami A, Paoletti M, Ferrari S, Garcia D Tags: Acta Haematol Source Type: research