Mutation reports: Intron 1 and 22 inversions in Indian haemophilics

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A

Richard D. Bagnall, Naushin Waseem, Peter M. Green et al. · Blood · 2002 · 405 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

J.A. Naylor, Astrid Brinke, Shella Hassock et al. · Human Molecular Genetics · 1993 · 265 citations

Life Sciences, Genetics, Molecular Genetics +13

Single-Tube Polymerase Chain Reaction for Rapid Diagnosis of the Inversion Hotspot of Mutation in Hemophilia A

Qiang Liu, G. Nozari, Steve S. Sommer · Blood · 1998 · 186 citations

Medicine, Genetics, Molecular Genetics +14

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

Edward G. D. Tuddenham, D.N. Cooper, Jane Gitschier et al. · Nucleic Acids Research · 1991 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia

Astrid Brinke · Human Molecular Genetics · 1996 · 45 citations · Full text

Medicine, Genetics, Molecular Genetics +16