The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. [electronic resource]
Producer: 20060613Description: 591 p. digitalISSN:- 1098-1004
- Base Sequence
- Codon, Nonsense
- Europe -- ethnology
- Female
- Founder Effect
- Gene Frequency
- Genetic Testing
- Heterozygote
- Humans
- Israel -- epidemiology
- Jews -- genetics
- Mucolipidoses -- epidemiology
- Mutation, Missense
- Sequence Deletion
- TRPM Cation Channels -- genetics
- Transient Receptor Potential Channels
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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