Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations
✍ Scribed by K. Grønskov; Anni Hallberg; Karen Brøndum-Nielsen
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 104 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0340-6717
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Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an
The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene. Molecular genetic study of fragile X provides accurate diagnosis and facilitates genetic counseling in families with affected members. We present here the molecular study of 59 Spa