Fernandez-Carvajal, Isabel

Expansion of an FMR1 grey-zone allele to a full mutation in two generations. [electronic resource] - The Journal of molecular diagnostics : JMD Jul 2009 - 306-10 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1943-7811

10.2353/jmoldx.2009.080174 doi


Alleles
DNA Mutational Analysis
Female
Fragile X Mental Retardation Protein--genetics
Fragile X Syndrome--genetics
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Mutation
Pedigree
Trinucleotide Repeat Expansion