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Direct detection of factor IX gene deletions in Indian haemophiliacs by multiplex PCR

✍ Scribed by Shrimati Shetty; Kanjaksha Ghosh; Dipika Mohanty


Book ID
114423277
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
61 KB
Volume
71
Category
Article
ISSN
0902-4441

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Loss of function of both copies of the RB1 gene is a causal event in the development of retinoblastoma. The predisposition to this tumor can be inherited as an autosomal dominant trait. Direct detection of the genetic defect is important for presymptomatic DNA diagnosis and genetic counseling in fam