Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.

Martínez, Raquel

Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype. [electronic resource] - Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2005 - 157-62 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1084-8592

10.1007/BF03260084 doi


Alleles
Blotting, Southern
Exons--genetics
Female
Fragile X Mental Retardation Protein--blood
Fragile X Syndrome--genetics
Heterozygote
Homozygote
Humans
Mutation--genetics
Pedigree
Phenotype
X Chromosome Inactivation--genetics