Article
[A homozygous variant in a consanguineous pedigree with inherited protein S deficiency].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases - 12 Apr 2021
Xie H X, Jin Y H, Yang L L, Xie Y Y, Liu S Q, Luo S S, Wang M S
Abstract excerpt
Objective: To observe the clinical feature of familiar hereditary protein S deficiency, and to explore the related gene mutation. Methods: The blood samples were obtained from the proband and the family memebers(3 generations,6 persons). PROS1 gene of the proband and the family members was analyzed. The 15 exons and flanking sequence of PROS1 gene were analyzed by PCR and DNA sequencing. Results: Five out of 6...
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