Three missense mutations in arg codons of the factor viii genes of mild to moderately severe hemophilia a patients
โ Scribed by A.P. Reiner; S.M. Stray; A.R. Thompson
- Book ID
- 119038677
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 628 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0049-3848
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Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene. The entire coding and essential sequences of the factor VIII gene were generated by a combination of genomic DNA amplification and long reverse transcription-polymerase chain reaction (long R
Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. To efficiently find missense mutations, hemophiliacs with mild and moderately severe forms of the disease were su