CTNS mutations in an American-based population of cystinosis patients

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1352-1362

  Shotelersuk, Vorasuk ^a   Larson, David ^a   Anikster, Yair ^a,b   McDowell, Geraldine ^a   Lemons, Rosemary ^c   Bernardini, Isa ^a   Guo, Juanru ^a   Thoene, Jess ^c   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; CYSTINOSIS; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; UNITED STATES;

EID: 0032231835     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302118     Document Type: Article

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