Literature DB >> 16011594

The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.

M Mitchell1, S Keeney, A Goodeve.   

Abstract

Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective manner. This guideline aims to provide advice on current best laboratory practice when approaching genetic diagnosis of haemophilia B.

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Year:  2005        PMID: 16011594     DOI: 10.1111/j.1365-2516.2005.01112.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN: 1351-8216            Impact factor:   4.287


  4 in total

1.  Clinical utility gene card for: haemophilia B.

Authors:  Peter Vincent Jenkins; Catriona Keenan; Steve Keeney; Tony Cumming; James S O'Donnell
Journal:  Eur J Hum Genet       Date:  2012-01-25       Impact factor: 4.246

Review 2.  Genetic sequence analysis of inherited bleeding diseases.

Authors:  Flora Peyvandi; Tom Kunicki; David Lillicrap
Journal:  Blood       Date:  2013-10-11       Impact factor: 22.113

3.  Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

Authors:  Muhammad Tariq Masood Khan; Arshi Naz; Jawad Ahmed; Tahir Shamsi; Shariq Ahmed; Nisar Ahmed; Ayisha Imran; Nazish Farooq; Muhammad Tariq Hamayun Khan; Abid Sohail Taj
Journal:  Clin Appl Thromb Hemost       Date:  2017-07-28       Impact factor: 2.389

4.  Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers.

Authors:  Muhammad Tariq Masood Khan; Arshi Naz; Jawad Ahmed; Tahir Sultan Shamsi; Abid Sohail Taj
Journal:  Pak J Med Sci       Date:  2017 May-Jun       Impact factor: 1.088

  4 in total

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