Confirmation of the clinical diagnosis of fragile X syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the FMR1 gene. The mechanism leading to mosaic alleles of repeat number and the role of methylation in this process is still unde
โฆ LIBER โฆ
A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood
โ Scribed by Maddalena, Anne; Yadvish, Karen N.; Spence, W. Christine; Howard-Peebles, Patricia N.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 492 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
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