Wöhrle, D

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