Article
Molecular genetics of Bloom's syndrome.
Human molecular genetics - 1 Jan 1996
Ellis N A, German J
Abstract excerpt
Mutation of the Bloom's syndrome (BS) gene, BLM, results in genomic instability. As the first step toward positional cloning of the gene, tight linkage of BLM and FES at 15q26.1 was detected by genotyping affected in families in which the parents are cousins, so-called homozygosity mapping. Linka...
Topics
- Alleles
- Amino Acid Sequence
- Bloom Syndrome
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- Genetic Heterogeneity
- Humans
- Jews
- Molecular Biology
- Molecular Sequence Data
- Recombination, Genetic
- Sequence Homology, Amino Acid