[PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 45(5): 863-866, 2023 Oct.
Article
en Zh
| MEDLINE
| ID: mdl-37621108
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteína S
/
Deficiencia de Proteína S
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
Idioma:
Zh
Revista:
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
Año:
2023
Tipo del documento:
Article
País de afiliación:
China