A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period

Sule Unal, Fatma Gumruk, Sule Yigit, Murat Tuncer, Betul Tavil, Onur Cil, Sahin Takci, Michiyo Urata, Taeko Hotta, Dongchon Kang, Mualla Cetin

研究成果: Contribution to journalArticle査読

4 被引用数 (Scopus)

抄録

Homozygous protein C deficiency is among rare causes of thrombophilia. Herein, we present a neonate with purpura fulminans, disseminated intravascular coagulation and severe intracranial hemorrhage who was found to have plasma protein C level of 4%. The molecular work-up revealed a novel homozygous mutation of T903C (amino acid position Leu 270 Pro) located in a catalytic domain region of PROC gene. Asymptomatic course in patients with low but measurable levels of protein C levels has been reported, which is different than observed in our patient who had a very severe course despite plasma protein C level of 4%.

本文言語英語
ページ(範囲)763-764
ページ数2
ジャーナルPediatric Blood and Cancer
61
4
DOI
出版ステータス出版済み - 4 2014

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 血液学
  • 腫瘍学

フィンガープリント

「A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル