A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1

BACKGROUND: Protein S deficiency (PSD) is an autosomal dominant hereditary disease. In 1984, familial PSD was reported to be prone to recurrent thrombosis. Follow-up studies have shown that heterozygous protein S (PROS1) mutations increase the risk of thrombosis. More than 300 PROS1 mutations have b...

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Detalles Bibliográficos
Autores principales: Zhang, Yan-ping, Lin, Bin, Ji, Yuan-yuan, Hu, Ya-nan, Lin, Xin-fu, Tang, Yi, Zhang, Jian-hui, Wu, Shao-jie, Cai, Sen-lin, Zhou, Yan-feng, Chen, Ting, Fang, Zhu-ting, Luo, Jie-wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424916/
https://www.ncbi.nlm.nih.gov/pubmed/34496879
http://dx.doi.org/10.1186/s12959-021-00316-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424916/
https://www.ncbi.nlm.nih.gov/pubmed/34496879
http://dx.doi.org/10.1186/s12959-021-00316-4

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