Functional genetic analysis of mutations implicated in a human speech and language disorder.

Vernes, Sonja C

Functional genetic analysis of mutations implicated in a human speech and language disorder. [electronic resource] - Human molecular genetics Nov 2006 - 3154-67 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/ddl392 doi


Alternative Splicing
Amino Acid Sequence
Apraxias--genetics
Brain--metabolism
Cell Line
Cell Nucleus--metabolism
Codon, Nonsense
DNA-Binding Proteins--genetics
Forkhead Transcription Factors--chemistry
Humans
Language Development Disorders--genetics
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation, Missense
Point Mutation
Protein Isoforms--chemistry
Protein Structure, Tertiary
Recombinant Proteins--analysis
Transcriptional Activation
Transfection