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Updated: Jun 7, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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一个新的SERPINC1 c.119G>A (p.Cys40Tyr) 突变,在印度家庭中具有可变的临床表达

Kranti Patil1, Asha Shah2, Gurpreet Saini1

  • 1Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
|November 11, 2024
PubMed
概括

一种新的SERPINC1突变导致严重的遗传性抗血栓缺乏症,导致两个兄弟的早期肺血栓栓塞. 他们的父亲,具有相同的突变,仍然没有症状,这表明其他遗传因素可能会影响疾病的严重程度.

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