Disease genes in the human genome
β Scribed by A. Pandey
- Book ID
- 114172967
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 58 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0168-9525
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Different types of human gene mutation may vary in size, from structural variants (SVs) to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by high
ot-L-iduronidase (IDUA), which when deficient causes mucopolysaccharidosis type I, is located near the Huntington disease locus (HD) on human Chromosome (Chr) 4p16.3, approximately 10 6 base pairs (bp) from the telomere. As part of our continuing efforts to define a detailed comparative map for this