A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

Milà, M

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion. [electronic resource] - Human genetics Oct 1996 - 419-21 p. digital

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

0340-6717

10.1007/s004390050232 doi


Adult
Atlantic Islands
Chromosome Mapping
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome--genetics
Genetic Carrier Screening
Humans
Intellectual Disability--genetics
Male
Methylation
Mutation
Nerve Tissue Proteins--genetics
Pedigree
RNA-Binding Proteins--genetics
Reference Values
Trinucleotide Repeats
X Chromosome