Article
Japanese family with congenital factor VII deficiency.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2015
Sakakibara Kanae, Okayama Yoshiki, Fukushima Kenji, Kaji Shunsaku, Muraoka Michiko, Arao Yujiro, Shimada Akira
Abstract excerpt
Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the...
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