TY  - GEN
AU  - Milà,M
AU  - Castellví-Bel,S
AU  - Giné,R
AU  - Vazquez,C
AU  - Badenas,C
AU  - Sánchez,A
AU  - Estivill,X
TI  - A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion
SN  - 0340-6717
PY  - 1996///1015
KW  - Adult
KW  - Atlantic Islands
KW  - Chromosome Mapping
KW  - Female
KW  - Fragile X Mental Retardation Protein
KW  - Fragile X Syndrome
KW  - genetics
KW  - Genetic Carrier Screening
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Methylation
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Pedigree
KW  - RNA-Binding Proteins
KW  - Reference Values
KW  - Trinucleotide Repeats
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s004390050232
ER  -