Literature DB >> 1903760

Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.

D S Millar1, P J Green, B Zoll, V V Kakkar, D N Cooper.   

Abstract

CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequencing of the appropriate region of the gene in female relatives of the probands.

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Year:  1991        PMID： 1903760     DOI： 10.1007/bf01213104

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  The CpG dinucleotide and human genetic disease.

Authors:  D N Cooper; H Youssoufian
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

2.  Characterization of the human factor VIII gene.

Authors:  J Gitschier; W I Wood; T M Goralka; K L Wion; E Y Chen; D H Eaton; G A Vehar; D J Capon; R M Lawn
Journal:  Nature       Date:  1984 Nov 22-28       Impact factor: 49.962

3.  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

4.  The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.

Authors:  J K Pattinson; D S Millar; J H McVey; C B Grundy; K Wieland; R S Mibashan; U Martinowitz; K Tan-Un; M Vidaud; M Goossens
Journal:  Blood       Date:  1990-12-01       Impact factor: 22.113
  4 in total

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