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Article

Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage.

The Kurume medical journal - 13 Apr 2017

Matsuo Yoko, Mizuochi Tatsuki, Miho Mitsuo, Nakagawa Shinichiro, Ozono Shuichi, Ueda Koichiro, Sogabe Yoko, Seki Ritsuko, Soejima Kenji, Okamura Takashi, Yamashita Yushiro

Abstract excerpt

A 10-day-old male patient was referred to our hospital with severe umbilical bleeding. Prothrombin time (PT) and activated partial thromboplastin time (APTT) were prominently prolonged. Plasma coagulation factor X (FX) activity and antigen levels were 1% and 0.6%, respectively. A DNA sequence analysis of his leukocytes revealed a compound heterozygous state; known Gly244 to Arg (p.G244R) in exon 6 and a novel...

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PMID: 28302935
DOI: 10.2739/kurumemedj.MS6300007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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