Associated Papers
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.
Ren J et al.
Human Genetics, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.
Zhang K et al.
Orphanet Journal of Rare Diseases, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.
Jiang S et al.
Acta Haematologica, 2023
Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.
Harris VA et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X et al.
Frontiers in Medicine, 2021
34778325 (PubMed )
Supplement: Data_Sheet_2.PDF
Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations.
Lin HY et al.
International Journal of Hematology, 2020
Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.
Peng Y et al.
Acta Haematologica, 2020
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