Protein S deficiency caused by cryptic splicing due to the novel intron variant c.346+5G>C in PROS1

•A novel splicing variant c.346+5G>C in PROS1 was identified.•The c.346+5G>C variant caused cryptic splicing and PS secretion defect.

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Bibliographic Details
Published in:Thrombosis research 2023-09, Vol.229, p.26-30
Main Authors: Nagaya, Satomi, Togashi, Tomoki, Akiyama, Masaharu, Imai, Yuta, Matsumoto, Haruto, Moriya, Haruka, Meguro-Horike, Makiko, Yasuda, Ibuki, Kikuchi, Yuika, Kuwajima, Yamato, Horike, Shin-ichi, Watanabe, Atsushi, Morishita, Eriko
Format: Article
Language:English
Subjects:
Hereditary thrombophilia
In silico splicing analysis
Protein S
Splicing variant
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Online Access:Get full text
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Description
Summary:•A novel splicing variant c.346+5G>C in PROS1 was identified.•The c.346+5G>C variant caused cryptic splicing and PS secretion defect.
ISSN:0049-3848
1879-2472
DOI:10.1016/j.thromres.2023.06.020