Cargando…
Case Report: PROS1 (p.Leu584Arg) pathogenic mutation causes portal and superior mesenteric venous thromboembolism
BACKGROUND: Genetic and acquired risk factors are fundamental to developing venous thromboembolism. Autosomal dominant protein S deficiency caused by pathogenic mutations in the PROS1 gene is a well-known risk factor for thrombophilia. CASE PRESENTATION: We report a 30-year-old male patient who pres...
Autores principales: | Ding, Peng, Zhou, Yuan, Zhang, Kai-Chen, Li, Sheng, Long, Kun-lan, Chen, Jun, Chen, Ying-jie, Gao, Pei-yang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10682651/ https://www.ncbi.nlm.nih.gov/pubmed/38034377 http://dx.doi.org/10.3389/fcvm.2023.1277676 |
Ejemplares similares
-
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations
por: Niel-Butschi, Florence, et al.
Publicado: (2011) -
Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations
por: Wang, Yangyang, et al.
Publicado: (2019) -
Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant
por: Hikishima, Sadao, et al.
Publicado: (2022) -
Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases
por: Bereczky, Zsuzsanna, et al.
Publicado: (2021) -
The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk
por: Catucci, Irene, et al.
Publicado: (2016)