1.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 45(5): 863-866, 2023 Oct.
Artigo
em Zh
| MEDLINE
| ID: mdl-37621108
RESUMO
Reduced protein S activity is one of the high-risk factors for venous thromboembolism.Hereditary protein S deficiency is an autosomal dominant disorder caused by mutations in the PROS1 gene.We reported a female patient with a mutation of c.292 G>T in exon 3 of the PROS1 gene,which was identified by sequencing.The genealogical analysis revealed that the mutation probably originated from the patient's mother.After searching against the PROS1 gene mutation database and the relevant literature,we confirmed that this mutation was reported for the first time internationally.