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Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene
Author(s) -
OYE C.,
JENKINS P.V.,
GOLDMAN E.,
PASI K. J.
Publication year - 1995
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.1995.tb00071.x
Subject(s) - medicine , intron , prenatal diagnosis , genetics , gene , computational biology , pregnancy , fetus , biology
Summary In approximately 50% of severe haemophilia A patients the mutation is present in the form of a large chromosomal disruption in the factor VIII gene; this disruption is described as an inversion. It results in the physical breakage and separation of exons 1‐2 and exons 23‐26 of the factor VIII gene.