Article
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.
Molecular genetics and metabolism - 1 Aug 1998
Li L, Eng C, Desnick R J, German J, Ellis N A
Abstract excerpt
Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashke...
Topics
- Adenosine Triphosphatases
- Base Sequence
- Bloom Syndrome
- DNA Helicases
- DNA Primers
- Gene Frequency
- Genetic Carrier Screening
- Humans
- Jews
- Mutation
- RecQ Helicases