Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A see comments

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene1990 · 75 citations
2. 2Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B1986 · 19 citations
3. 3Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms.1987 · 29 citations
4. 4Carrier detection in 50 haemophilia A kindred by means of three intragenic and two extragenic restriction fragment length polymorphisms1988 · 20 citations
5. 5Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions1993 · 266 citations