Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population
โ Scribed by Lisa Edelmann; Melissa P. Wasserstein; Ruth Kornreich; Claude Sansaricq; Selma E. Snyderman; George A. Diaz
- Book ID
- 117853711
- Publisher
- American Society of Human Genetics
- Year
- 2001
- Tongue
- English
- Weight
- 418 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/323677
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutatio
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].