Article
Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.
American journal of medical genetics - 9 Aug 1996
Grasso M, Perroni L, Dagna-Bricarelli F, Rinaldi A, Robledo R, Siniscalco M, Filippi G
Abstract excerpt
This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable...
Topics
- B-Lymphocytes
- DNA
- DNA Probes
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Genetic Markers
- Humans
- Italy
- Male
- Mutation
- Nerve Tissue Proteins
- Phenotype