Characterization of a mutation commonly associated with persistent stuttering: Evidence for a founder mutation

Journal of Human Genetics

Volumn 56, Issue 1, 2011, Pages 80-82

  Fedyna, Alison ^a   Drayna, Dennis ^a   Kang, Changsoo ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

founder; GNPTAB; haplotype; lysosome; mucolipidosis; stuttering

Indexed keywords

N ACETYLGLUCOSAMINE 1 PHOSPHATE TRANSFERASE ALPHA; N ACETYLGLUCOSAMINE 1 PHOSPHATE TRANSFERASE BETA; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 12; CLINICAL ARTICLE; DISEASE ASSOCIATION; FOUNDER MUTATION; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; STUTTERING;

AMINO ACID SUBSTITUTION; CHROMOSOME MAPPING; FAMILY CHARACTERISTICS; FOUNDER EFFECT; GENOME-WIDE ASSOCIATION STUDY; GLUTAMIC ACID; HUMANS; LYSINE; MUTATION; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; STUTTERING; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 79251648073     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.125     Document Type: Article

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