A polymorphism was identified in 3' untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G-->A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identi
A novelNcoI polymorphism creates a fifth haplotype in the 3′ untranslated region of CKM
✍ Scribed by Ann-Marie Differ; Martin Bobrow; Christopher G. Mathew
- Book ID
- 104670026
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 172 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A novel NcoI polymorphism has been detected in the 3' untranslated region of the creatinine kinase (CKM) gene. The addition NcoI restriction site creates a fifth haplotype for the NcoI and TaqI restriction fragments length polymorphisms at this locus, and segregates with the myotonic dystrophy gene in 3 generations of an affected family.
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