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.
Article
em Zh
| WPRIM
| ID: wpr-1008098
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Linhagem
/
Proteína S
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Deficiência de Proteína S
/
Mutação
Limite:
Female
/
Humans
Idioma:
Zh
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2023
Tipo de documento:
Article