Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. [electronic resource]
- Journal of medical genetics Feb 1998
- 103-11 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.35.2.103 doi
Blotting, Southern Child, Preschool Chorionic Villi--physiology DNA Methylation DNA Restriction Enzymes--chemistry Electrophoresis, Agar Gel Female Fragile X Mental Retardation Protein Fragile X Syndrome--genetics Humans Immunohistochemistry Intellectual Disability--genetics Male Middle Aged Mosaicism Mutation Nerve Tissue Proteins--blood Pedigree Pregnancy Prenatal Diagnosis RNA-Binding Proteins--blood Sex Chromosome Aberrations Sex Chromosomes Trinucleotide Repeats--genetics