The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000].
✦ LIBER ✦
Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population
✍ Scribed by Michal Bronstein; Anne Pisanté; Benjamin Yakir; Ariel Darvasi
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 266 KB
- Volume
- 124
- Category
- Article
- ISSN
- 0340-6717
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