Analysis of F9 point mutations and their correlation to severity of haemophilia B disease-Reference-Cited by-同舟云学术

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease

Published:2012-05-29 Issue:6 Volume:18 Page:933-940
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Hamasaki-Katagiri N.¹,Salari R.²,Simhadri V. L.¹,Tseng S. C.¹,Needlman E.¹,Edwards N. C.¹,Sauna Z. E.¹,Grigoryan V.²,Komar A. A.³,Przytycka T. M.²,Kimchi-Sarfaty C.¹

Affiliation:

1. Division of Hematology; Laboratory of Hemostasis; Center for Biologics Evaluation & Research; US FDA; Bethesda; MD; USA

2. National Center for Biotechnology Information; National Library of Medicine; National Institutes of Health; Bethesda; MD; USA

3. Department of Biological, Geological & Environmental Sciences; Center for Gene Regulation in Health and Disease; Cleveland State University; Cleveland; OH; USA

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2012.02848.x/fullpdf

Reference19 articles.

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2. The hemophilias - from royal genes to gene therapy;Mannucci;N Engl J Med,2001

3. Optimization of self-complementary AAV vectors for liver-directed expression results in sustained correction of hemophilia B at low vector dose;Wu;Mol Ther,2008

4. In vivo genome editing restores haemostasis in a mouse model of haemophilia;Li;Nature,2011

5. Molecular cloning of the gene for human anti-haemophilic factor IX;Choo;Nature,1982

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1. In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B;BMC Bioinformatics;2019-06-28

2. MUTATIONAL PROFILES OF F8 AND F9 IN A COHORT OF HAEMOPHILIA A AND HAEMOPHILIA B PATIENTS IN THE MULTI-ETHNIC MALAYSIAN POPULATION;Mediterranean Journal of Hematology and Infectious Diseases;2018-09-01

3. Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B;Journal of Medical Genetics;2016-12-22

4. ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia;Cerebellum & Ataxias;2016-01-13

5. The Art of Gene Redesign and Recombinant Protein Production: Approaches and Perspectives;Topics in Medicinal Chemistry;2016