Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency-Reference-Cited by-同舟云学术

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Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

Published:2013-06-04 Issue:6 Volume:19 Page:893-897
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Borhany M.¹,Boijout H.²,Pellequer J.-L.³,Shamsi T.¹,Moulis G.²,Aguilar-Martinez P.²,Schved J.-F.²,Giansily-Blaizot M.²

Affiliation:

1. Department of Haematology, Haemostasis & Thrombosis; National Institute of Blood Disease & Bone Marrow Transplantation (NIBD); Karachi Pakistan

2. CHU Montpellier, Département d'Hématologie Biologique; Hôpital Saint-Eloi; Montpellier France

3. CEA, DSV, iBEB, Service de Biochimie et Toxicologie Nucléaire; Bagnols sur Cèze France

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12186/fullpdf

Reference19 articles.

1. Factor VII deficiency;Mariani;Semin Thromb Hemost,2009

2. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation;O'Hara;Proc Natl Acad Sci U S A,1987

3. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD);Tosetto;J Thromb Haemost,2006

4. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders;Peyvandi;J Thromb Haemost,2012

5. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency;Mariani;Thromb Haemost,2005

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1. Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report;Molecular Genetics & Genomic Medicine;2024-07

2. Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency;Genes;2023-09-06

3. Factor VII deficiency: A cause of (or risk factor for) bleeding?;British Journal of Haematology;2023-04-12

4. Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases;Research and Practice in Thrombosis and Haemostasis;2023-01

5. Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect;Haemophilia;2022-12-26

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