Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

Subjects

Subjects :

Alleles
Child
Child, Preschool
Codon genetics
Exons genetics
Humans
Introns genetics
Male
Mutagenesis, Insertional genetics
Pedigree
Reverse Transcriptase Polymerase Chain Reaction
Tuberous Sclerosis diagnosis
Tuberous Sclerosis Complex 1 Protein
DNA Mutational Analysis
Phenotype
RNA Splice Sites genetics
Tuberous Sclerosis genetics
Tumor Suppressor Proteins genetics

Details

Language :

English

ISSN :

1468-330X

Volume :

81

Issue :

3

Database :

MEDLINE

Journal :

Journal of neurology, neurosurgery, and psychiatry

Publication Type :

Report

Accession number :

20185476

Full Text :

https://doi.org/10.1136/jnnp.2009.179689