Article
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.
American journal of human genetics - 1 Sept 1995
de Graaff E, Willemsen R, Zhong N, de Die-Smulders C E, Brown W T, Freling G, Oostra B
Abstract excerpt
The molecular mechanism of the fragile X syndrome is based on the expansion of an CGG repeat in the 5' UTR of the FMR1 gene in the majority of fragile X patients. This repeat displays instability both between individuals and within an individual. We studied the instability of the CGG repeat and t...
Topics
- Base Sequence
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Immunohistochemistry
- Lung
- Lung Neoplasms
- Male
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid
- Testis