Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

New England Journal of Medicine

Volumn 362, Issue 8, 2010, Pages 677-685

  Kang, Changsoo ^a   Riazuddin, Sheikh ^d   Mundorff, Jennifer ^e   Krasnewich, Donna ^b   Friedman, Penelope ^c   Mullikin, James C ^b   Drayna, Dennis ^a  

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

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF THE PUNJAB   (Pakistan)

^e Hollins Commun Research Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROLASE; LYSOSOME ENZYME; MANNOSE 6 PHOSPHATE; N ACETYLGLUCOSAMINE 1 PHOSPHATE TRANSFERASE; TRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 12Q; CLINICAL EXAMINATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUCOLIPIDOSIS; MUTATIONAL ANALYSIS; NORTH AMERICA; PAKISTAN; PEDIGREE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; STUTTERING;

EID: 77349117333     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0902630     Document Type: Article

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