Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. [electronic resource]
Producer: 20070529Description: 638-9 p. digitalISSN:- 1098-1004
- Abnormalities, Multiple -- genetics
- Alternative Splicing
- Central Nervous System -- abnormalities
- Consanguinity
- DNA Mutational Analysis
- Exons
- Haplotypes
- Homozygote
- Humans
- Introns
- Kidney Diseases, Cystic -- genetics
- Kuwait
- Liver -- abnormalities
- Mutation
- Pedigree
- Polydactyly -- genetics
- Proteins -- genetics
- Sequence Deletion
- Syndrome
- Turkey
- White People -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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