Article
[Hereditary neurological diseases caused by amplification of triplet repetitions].
Presse medicale (Paris, France : 1983) - 28 Feb 1998
Warter J M, Tranchant C
Abstract excerpt
NEW TYPE OF MUTATION: Repeated sequences of nucleotide triplets can cause two groups of diseases. GROUP I DISEASES: These diseases result from an expansion of a noncoding portion of a gene which may be repeated more than 1000 times. This group includes several multisystem diseases such as the fra...
Topics
- DNA Mutational Analysis
- Gene Amplification
- Genetic Counseling
- Genetic Diseases, Inborn
- Genetic Testing
- Humans
- Mutation
- Nervous System Diseases
- Prenatal Diagnosis
- Trinucleotide Repeats
