PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 863-866, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-1008098
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Proteína S
/
Deficiencia de Proteína S
/
Mutación
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Acta Academiae Medicinae Sinicae
Año:
2023
Tipo del documento:
Artículo
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