RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

American Journal of Human Genetics

Volumn 97, Issue 1, 2015, Pages 153-162

  Jeanson, Ludovic ^a   Copin, Bruno ^b   Papon, Jean François ^c,d   Dastot Le Moal, Florence ^b   Duquesnoy, Philippe ^a   Montantin, Guy ^b   Cadranel, Jacques ^a,b   Corvol, Harriet ^a,b   Coste, André ^c,e   Désir, Julie ^f   Souayah, Anissa ^g   Kott, Esther ^a   Collot, Nathalie ^b   Tissier, Sylvie ^b   Louis, Bruno ^c   Tamalet, Aline ^b   De Blic, Jacques ^h   Clement, Annick ^a,b   Escudier, Estelle ^a,b   Amselem, Serge ^a,b   Legendre, Marie ^a,b   more..

^a SORBONNE UNIVERSITÉ   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^d BICÊTRE HOSPITAL   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^g HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CENTRAL COMPLEX DEFECT; CHILD; CHLAMYDOMONAS REINHARDTII; CILIARY DYSKINESIA; CILIARY MOTILITY; CILIATED EPITHELIUM CELL; CONTROLLED STUDY; EUKARYOTIC FLAGELLUM; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; MALE; MIDDLE AGED; PRIORITY JOURNAL; RADIAL SPOKE DEFECT; RSPH1 GENE; RSPH3 GENE; RSPH4A GENE; RSPH9 GENE; SCHOOL CHILD; VIDEO MICROSCOPY; GENETIC PREDISPOSITION; GENETICS; KARTAGENER SYNDROME; MUTATION; PATHOLOGY; PHENOTYPE; ULTRASTRUCTURE;

ALGAE; CHLAMYDOMONAS REINHARDTII;

NERVE PROTEIN; RSP3 PROTEIN, HUMAN;

CILIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KARTAGENER SYNDROME; MICROSCOPY, VIDEO; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE;

EID: 84937516688     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.05.004     Document Type: Article

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