FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.

Autor: de Vries, B.B.A., Severijnen, L.-A., Jacobs, A., Olmer, R., Halley, D.J.J., Oostra, B.A., Willemsen, R.
Předmět:
Zdroj: Journal of Medical Genetics; Jul2003, Vol. 40 Issue 7, p535-539, 5p, 8 Black and White Photographs, 1 Diagram, 1 Chart
Abstrakt: Investigates the FMRP gene expression in blood and hair roots in a family suffering from fragile x syndrome with methylation mosaics. Mosaicism in fragile x patients; Protein expressions in cell lines; Premutation range in the size of unmethylated alleles.
Databáze: Complementary Index