Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. [electronic resource]
Producer: 19990520Description: 1305-15 p. digitalISSN:- 0002-9297
- Blotting, Southern
- Cohort Studies
- DNA Mutational Analysis -- methods
- Exons -- genetics
- Family
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation -- genetics
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Proteins -- genetics
- Repressor Proteins -- genetics
- Tuberous Sclerosis -- genetics
- Tuberous Sclerosis Complex 1 Protein
- Tuberous Sclerosis Complex 2 Protein
- Tumor Suppressor Proteins
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
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