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Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling

โœ Scribed by CINDY L. VNENCAK-JONES; JOHN A. PHILLIPS. III; ROBERT L. JANCO; MELINDA P. COHEN; WILLIAM D. DUPONT; HAIG H. KAZAZIAN; JUDITH P. ROSSITER


Book ID
108769334
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
616 KB
Volume
2
Category
Article
ISSN
1351-8216

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Using chemical mismatch analysis or denaturing gradient gel electrophoresis followed by nucleotide sequencing, we have identified the same G6545A mutation leading to an Arg 2163 His substitution in the factor VIII gene of three haemophiliacs from unrelated families. One of the affected individuals h