Literature DB >> 16011593

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

S Keeney1, M Mitchell, A Goodeve.   

Abstract

Haemophilia A is a common inherited bleeding disorder that 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 defect. 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 A.

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Year:  2005        PMID: 16011593     DOI: 10.1111/j.1365-2516.2005.01111.x

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


  8 in total

Review 1.  Genetic sequence analysis of inherited bleeding diseases.

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

2.  Pharmacokinetics and ex vivo whole blood clot formation of a new recombinant FVIII (N8) in haemophilia A dogs.

Authors:  D M Karpf; M Kjalke; L Thim; H Agersø; E P Merricks; N Defriess; T C Nichols; M Ezban
Journal:  Haemophilia       Date:  2011-06-20       Impact factor: 4.287

3.  Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine.

Authors:  Caesar Mahmoud Abu Arra; Fekri Samarah; Nael Sudqi Abu Hasan
Journal:  Scientifica (Cairo)       Date:  2020-09-25

Review 4.  von Willebrand disease.

Authors:  Paula D James; Anne C Goodeve
Journal:  Genet Med       Date:  2011-05       Impact factor: 8.822

5.  Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.

Authors:  Shu-Kai Qiao; Han-Yun Ren; Jin-Hai Ren; Xiao-Nan Guo
Journal:  Mol Med Rep       Date:  2013-12-04       Impact factor: 2.952

Review 6.  Preimplantation genetic diagnosis of hemophilia A.

Authors:  Ming Chen; Shun-Ping Chang; Gwo-Chin Ma; Wen-Hsian Lin; Hsin-Fu Chen; Shee-Uan Chen; Horng-Der Tsai; Feng-Po Tsai; Ming-Ching Shen
Journal:  Thromb J       Date:  2016-10-04

7.  Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

Authors:  Yin Feng; Qianqian Li; Panlai Shi; Ning Liu; Xiangdong Kong; Ruixia Guo
Journal:  Haemophilia       Date:  2020-11-27       Impact factor: 4.287

8.  Clinical Application of Factor VIII:C to VWF:Ag Ratio for the Screening of Haemophilia A Carriers.

Authors:  Ki-Young Yoo; Soo-Young Jung; Jin-Young Choi; Hye-Ryeon Park; Young-Shil Park
Journal:  J Clin Med       Date:  2022-03-18       Impact factor: 4.241

  8 in total

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