Molecular and Cytogenetic Investigations of the Fragile X Region Including the Frax A and Frax E CGG Trinucleotide Repeat Sequences in Families Multiplex for Autism and Related Phenotypes

We undertook molecular and cytogenetic analyses in 25 families multiplex for autism and related disorders. Three of the multiplex families exhibited fragile X, and the affected offspring all exhibited CGG triplet repeat insertion mutations in the FMR-1 gene. One of these families contained an affect...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human heredity 1997-09, Vol.47 (5), p.254-262
Hauptverfasser:	Gurling, H.M.D., Bolton, P.F., Vincent, J., Melmer, G., Rutter, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autistic Disorder - genetics Biological and medical sciences Blotting, Southern Chromosome aberrations DNA Transposable Elements - genetics Family Health Female Fragile X Mental Retardation Protein Fragile X Syndrome - genetics Humans Male Medical genetics Medical sciences Methylation Mutation - genetics Nerve Tissue Proteins - genetics Nerve Tissue Proteins - physiology Original Paper Pedigree Phenotype Polymerase Chain Reaction RNA-Binding Proteins Trinucleotide Repeat Expansion - genetics Trinucleotide Repeats - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!