Literature DB >> 1674433

Progress in the DNA diagnosis of hemophilias.

M Goossens1, N Ghanem.   

Abstract

DNA diagnosis of hemophilias has received much attention in recent years, and different methods are presently available to analyze the coagulation factor IX and VIII genes. This review is intended to serve as a brief guide to current and emerging diagnostic strategies.

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Year:  1991        PMID： 1674433     DOI： 10.1007/bf01702924

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


  24 in total

1.  Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.

Authors:  H Youssoufian; H H Kazazian; D G Phillips; S Aronis; G Tsiftis; V A Brown; S E Antonarakis
Journal:  Nature       Date:  1986 Nov 27-Dec 3       Impact factor: 49.962

2.  Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

Authors:  M D Traystman; M Higuchi; C K Kasper; S E Antonarakis; H H Kazazian
Journal:  Genomics       Date:  1990-02       Impact factor: 5.736

3.  Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

Authors:  O Attree; D Vidaud; M Vidaud; S Amselem; J M Lavergne; M Goossens
Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

4.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

5.  Detection and localization of single base changes by denaturing gradient gel electrophoresis.

Authors:  R M Myers; T Maniatis; L S Lerman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

Review 6.  The molecular basis of blood coagulation.

Authors:  B Furie; B C Furie
Journal:  Cell       Date:  1988-05-20       Impact factor: 41.582

7.  Molecular cloning of the gene for human anti-haemophilic factor IX.

Authors:  K H Choo; K G Gould; D J Rees; G G Brownlee
Journal:  Nature       Date:  1982-09-09       Impact factor: 49.962

8.  Mutations of factor VIII cleavage sites in hemophilia A.

Authors:  J Gitschier; S Kogan; B Levinson; E G Tuddenham
Journal:  Blood       Date:  1988-09       Impact factor: 22.113

9.  The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots.

Authors:  P M Green; A J Montandon; D R Bentley; R Ljung; I M Nilsson; F Giannelli
Journal:  Nucleic Acids Res       Date:  1990-06-11       Impact factor: 16.971

10.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598
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