Improved assay for genotyping haemophilia A carriers with intron 22 dinucleotide repeat marker
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
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Title |
Improved assay for genotyping haemophilia A carriers with
intron 22 dinucleotide repeat marker
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Creator |
Saha, A
Mukherjee, S Ray, Kunal |
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Subject |
Molecular & Human Genetics
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Description |
Haemophilia A, the most common bleeding disorder
caused by defects in the Factor VIII gene (FVIII),
affects one in 5000 males worldwide. Due to the
inherent instability of the gene, caused by the
presence of multiple copies of the same genomic
regions, de novo mutation accounts for 40–50% of
the gene defects. In addition, heterogeneous mutations
have been detected covering its entire length
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Date |
2006
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Type |
Article
PeerReviewed |
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Format |
application/pdf
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Identifier |
http://www.eprints.iicb.res.in/464/1/HAEMOPHILIA%2C12(_2)%2C_200%2D201[126].pdf
Saha, A and Mukherjee, S and Ray, Kunal (2006) Improved assay for genotyping haemophilia A carriers with intron 22 dinucleotide repeat marker. Haemophilia, 12 (2). pp. 200-201. |
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Relation |
htpp://dx.doi.org/10.1111/j.1365-2516.2006.01205.x
http://www.eprints.iicb.res.in/464/ |
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