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
β¦ LIBER β¦
A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability
β Scribed by T Mononen; H Von Koskull; R-L Airaksinen; V Juvonen
- Book ID
- 110888497
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 107 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Molecular analysis of the (CGG)nexpansio
β
M. MilΓ ; H. Kruyer; G. Glover; A. SΓ‘nchez; P. Carbonell; S. CastellvΓ-Bel; V. Vo
π
Article
π
1994
π
Springer
π
English
β 734 KB
Molecular-intelligence correlations in y
β
Steyaert, Jean; Borghgraef, Martine; Legius, Eric; Fryns, Jean-Pierre
π
Article
π
1996
π
John Wiley and Sons
π
English
β 484 KB
π 2 views
Several mechanisms can explain the occurrence of full-mutation fragile X males with an I& level above -2 SD below mean, also called "high-functioning fragile X males." Incomplete methylation of the CpG island at the 5' end of the FMRl gene is one of these mechanisms. The present study describes the
Comparison between the cytogenetic test
β
Hofstee, Yvonne ;Arinami, Tadao ;Hamaguchi, Hideo
π
Article
π
1994
π
John Wiley and Sons
π
English
β 510 KB
Genetic Diversity of the Fragile X Syndr
β
Emmanuel K. Peprah; Emily G. Allen; Scott M. Williams; Laresa M. Woodard; Stepha
π
Article
π
2010
π
John Wiley and Sons
π
English
β 348 KB
No apparent involvement of the FMR1 gene
β
Chiurazzi, Pietro ;de Graaff, Esther ;Ng, Jessica ;Verkerk, Annemieke J. M. H. ;
π
Article
π
1994
π
John Wiley and Sons
π
English
β 610 KB
DNA diagnosis of the fragile X syndrome
β
van den Ouweland, Ans M. W. ;de Vries, Bert B. A. ;Bakker, P. Lida G. ;Deelen, W
π
Article
π
1994
π
John Wiley and Sons
π
English
β 450 KB
π 2 views