Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII

2013 ◽  
Vol 131 (2) ◽  
pp. 166-172 ◽  
Author(s):  
Keijiro Suzuki ◽  
Takeshi Sugawara ◽  
Yoji Ishida ◽  
Akira Suwabe
Keyword(s):  
Factor Vii ◽  
Compound Heterozygous ◽  
Intracellular Degradation ◽  
Factor Vii Deficiency ◽  
Compound Heterozygous Mutations

Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation

2008 ◽  
Vol 19 (1) ◽  
pp. 92-94 ◽  
Author(s):  
Sun-Min Lee ◽  
Yong-Seok Heo ◽  
Eun-Yup Lee ◽  
Chulhun L Chang ◽  
Ho-Jin Shin ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Factor Vii ◽  
Compound Heterozygous ◽  
Factor Vii Deficiency ◽  
Compound Heterozygous Mutations

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

2021 ◽  
Author(s):  
Ya‐nan Hu ◽  
Yu‐mian Gan ◽  
Yan‐ping Zhang ◽  
Dan‐dan Ruan ◽  
Yao‐bin Zhu ◽  
...  
Keyword(s):  
Factor Vii ◽  
Compound Heterozygous ◽  
Hereditary Factor ◽  
Factor Vii Deficiency ◽  
Heterozygous Variant

Inherited Factor VII Deficiency: Genetics and Molecular Pathology

1995 ◽  
Vol 74 (01) ◽  
pp. 313-321 ◽  
Author(s):  
Edward G D Tuddenham ◽  
Susan Pemberton ◽  
David N Cooper
Keyword(s):  
Molecular Pathology ◽  
Factor Vii ◽  
Factor Vii Deficiency

Two Typical Hereditary Charts of Congenital Factor VII Deficiency

1961 ◽  
Vol 05 (01) ◽  
pp. 087-092 ◽  
Author(s):  
F. J Cleton ◽  
E. A Loeliger
Keyword(s):  
Factor Vii ◽  
Autosomal Gene ◽  
Homozygous State ◽  
Recessive Character ◽  
Factor Vii Deficiency ◽  
Complete Penetrance ◽  
Coagulation Defect ◽  
Haemorrhagic Diathesis ◽  
Intermediate Expression ◽  
Congenital Factor

SummaryThe inheritance of congenital factor VII deficiency was investigated in 2 unrelated families. Out of 68 individuals, 4 (3 proven and 1 highly probable) were found to have severe factor VII deficiency (<C 0.1% factor VII), and 29 appeared to be heterozygotes (30—60% factor VII). The coagulation defect is due to an autosomal gene of intermediate expression and complete penetrance. The recessive character of the haemorrhagic diathesis due to the homozygous state for the abnormal gene is clearly demonstrated.

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