Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

American Journal of Human Genetics

Volumn 92, Issue 1, 2013, Pages 88-98

  Onoufriadis, Alexandros ^a   Paff, Tamara ^b   Antony, Dinu ^a   Shoemark, Amelia ^c   Micha, Dimitra ^b   Kuyt, Bertus ^b   Schmidts, Miriam ^a   Petridi, Stavroula ^a   Dankert Roelse, Jeanette E ^d   Haarman, Eric G ^b   Daniels, Johannes M A ^b   Emes, Richard D ^e   Wilson, Robert ^c   Hogg, Claire ^c   Scambler, Peter J ^a   Chung, Eddie M K ^a   Pals, Gerard ^a,b   Mitchison, Hannah M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^d Sittard Geleen Heerlen   (Netherlands)

^e UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CCDC114 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AXONEME; BRONCHUS MUCOSA; CELLULAR DISTRIBUTION; CHLAMYDOMONAS; CILIARY DYSKINESIA; EXON; FERTILITY; GENE MUTATION; GENE SEQUENCE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIMARY CILIARY DYSKINESIA; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RESPIRATORY EPITHELIUM;

AXONEME; BASE SEQUENCE; DYNEINS; FEMALE; HUMANS; KARTAGENER SYNDROME; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA SPLICE SITES;

ALGAE; CHLAMYDOMONAS;

EID: 84872342461     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.11.002     Document Type: Article

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