Article
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.
Pediatric blood & cancer - 1 Jul 2017
Inoue Hirofumi, Terachi Shin-Ichi, Uchiumi Takeshi, Sato Tetsuji, Urata Michiyo, Ishimura Masataka, Koga Yui, Hotta Taeko, Hara Toshiro, Kang Dongchon, Ohga Shouichi
Abstract excerpt
BACKGROUND: Severe protein C (PC) deficiency is a rare heritable thrombophilia leading to thromboembolic events during the neonatal period. It remains unclear how individuals with complete PC gene (PROC) defects develop or escape neonatal stroke or purpura fulminans (PF). PROCEDURE: We studied the onset of disease and the genotype of 22 PC-deficient patients with double mutations in PROC based on our cohort (n =...
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