Analysis of phenotype and genotype of a family with hereditary coagulation factor V deficiency caused by the compound heterozygous mutations

2020 ◽  
Vol 31 (7) ◽  
pp. 485-489
Author(s):  
Shasha Luo ◽  
Siqi Liu ◽  
Mengjie Xu ◽  
Xiaolong Li ◽  
Haiyue Zhang ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Compound Heterozygous ◽  
Factor V ◽  
Factor V Deficiency ◽  
Coagulation Factor V ◽  
Compound Heterozygous Mutations

A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene

Haemophilia ◽  
2006 ◽  
Vol 12 (2) ◽  
pp. 172-178 ◽  
Author(s):  
N. YAMAKAGE ◽  
M. IKEJIRI ◽  
K. OKUMURA ◽  
A. TAKAGI ◽  
T. MURATE ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Compound Heterozygous ◽  
Factor V ◽  
Factor V Deficiency ◽  
Coagulation Factor V ◽  
Factor V Gene ◽  
V Gene ◽  
Compound Heterozygous Mutations

scholarly journals Profiling the mutational landscape of coagulation factor V deficiency

Haematologica ◽  
2019 ◽  
Vol 105 (4) ◽  
pp. e180-e185
Author(s):  
Elvezia Maria Paraboschi ◽  
Marzia Menegatti ◽  
Valeria Rimoldi ◽  
Munira Borhany ◽  
Magy Abdelwahab ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Factor V ◽  
Mutational Landscape ◽  
Factor V Deficiency ◽  
Coagulation Factor V

scholarly journals Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs∗2) in the F5 gene

Medicine ◽  
2020 ◽  
Vol 99 (5) ◽  
pp. e18947
Author(s):  
Chang-Hun Park ◽  
Min-Seung Park ◽  
Ki-O Lee ◽  
Sun-Hee Kim ◽  
Young Shil Park ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Factor V ◽  
Factor V Deficiency ◽  
Novel Variant ◽  
Compound Heterozygous Mutations ◽  
Congenital Factor

Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees

Haemophilia ◽  
2004 ◽  
Vol 10 (3) ◽  
pp. 264-270 ◽  
Author(s):  
Q.-H. Fu ◽  
R.-F. Zhou ◽  
L.-G. Liu ◽  
W.-B. Wang ◽  
W.-M. Wu ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Coagulation Factor ◽  
Factor V ◽  
Factor V Deficiency ◽  
Coagulation Factor V

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family

2009 ◽  
Vol 20 (2) ◽  
pp. 150-156 ◽  
Author(s):  
Jaewoo Song ◽  
Ilaria Guella ◽  
Ki-Yung Kwon ◽  
Hyunsoo Cho ◽  
Rojin Park ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Factor V ◽  
Korean Family ◽  
Factor V Deficiency ◽  
C1 Domain ◽  
Coagulation Factor V

Concerns about the Mutations Identified in a Case of Familial Coagulation Factor V Deficiency: Factor V Stanford

2000 ◽  
Vol 84 (12) ◽  
pp. 1131-1132 ◽  
Author(s):  
Maria Montefusco ◽  
Rosanna Asselta ◽  
Richard van Wijk ◽  
Stefano Duga ◽  
Maria Tenchini
Keyword(s):  
Coagulation Factor ◽  
Factor V ◽  
Factor V Deficiency ◽  
Coagulation Factor V
Sign in / Sign up

Export Citation Format

Share Document