TY  - GEN
AU  - Wöhrle,D
AU  - Salat,U
AU  - Gläser,D
AU  - Mücke,J
AU  - Meisel-Stosiek,M
AU  - Schindler,D
AU  - Vogel,W
AU  - Steinbach,P
TI  - Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats
SN  - 0022-2593
PY  - 1998///0423
KW  - Blotting, Southern
KW  - Child, Preschool
KW  - Chorionic Villi
KW  - physiology
KW  - DNA Methylation
KW  - DNA Restriction Enzymes
KW  - chemistry
KW  - Electrophoresis, Agar Gel
KW  - Female
KW  - Fragile X Mental Retardation Protein
KW  - Fragile X Syndrome
KW  - genetics
KW  - Humans
KW  - Immunohistochemistry
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Mosaicism
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - blood
KW  - Pedigree
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - RNA-Binding Proteins
KW  - Sex Chromosome Aberrations
KW  - Sex Chromosomes
KW  - Trinucleotide Repeats
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.35.2.103
ER  -