Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Nature

Volumn 425, Issue 6958, 2003, Pages 628-633

  Ansley, Stephen J ^a   Badano, Jose L ^a   Blacque, Oliver E ^c   Hill, Josephine ^d   Hoskins, Bethan E ^a,d   Leitch, Carmen C ^a   Kim, Jun Chul ^c   Ross, Alison J ^d   Eichers, Erica R ^e   Teslovich, Tanya M ^a   Mah, Allan K ^c   Johnsen, Robert C ^c   Cavender, John C ^f   Lewis, Richard Alan ^e   Leroux, Michel R ^c   Beales, Philip L ^d   Katsanis, Nicholas ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c SIMON FRASER UNIVERSITY   (Canada)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f King Khaled Eye Specialists Hospital   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; GENES; PROTEINS; VISION;

PROKARYOTES;

BIODIVERSITY;

GENE PRODUCT; PROTEIN PCM1; PROTEIN PILF; PROTEIN RFX; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

MEDICINE;

ARTICLE; BARDET BIEDL SYNDROME; BBS8 GENE; CILIATED EPITHELIUM; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENE LOCATION; GENETIC CODE; HUMAN; HUMAN CELL; KIDNEY MALFORMATION; KINETOSOME; LUNG; MALE; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN DOMAIN; RANDOMIZATION; RETINA DYSTROPHY;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CAENORHABDITIS ELEGANS; CELL LINE; CENTROSOME; CILIA; FEMALE; GENE DELETION; GENE EXPRESSION PROFILING; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONS; PEDIGREE; PROTEINS; RNA, MESSENGER;

CAENORHABDITIS; CAENORHABDITIS ELEGANS; PROKARYOTA;

EID: 0142104970     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature02030     Document Type: Article

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