Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

American Journal of Human Genetics

Volumn 92, Issue 1, 2013, Pages 99-106

  Knowles, Michael R ^a   Leigh, Margaret W ^a   Ostrowski, Lawrence E ^a   Huang, Lu ^a   Carson, Johnny L ^a   Hazucha, Milan J ^a   Yin, Weining ^a   Berg, Jonathan S ^a   Davis, Stephanie D ^a   Dell, Sharon D ^b   Ferkol, Thomas W ^c   Rosenfeld, Margaret ^d   Sagel, Scott D ^e   Milla, Carlos E ^f   Olivier, Kenneth N ^g   Turner, Emily H ^h   Lewis, Alexandra P ^h   Bamshad, Michael J ^h   Nickerson, Deborah A ^h   Shendure, Jay ^h   Zariwala, Maimoona A ^a   more..

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e Children's Hospital Colorado   (United States)

^f STANFORD UNIVERSITY   (United States)

^g NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALGAL PROTEIN; CCDC114 PROTEIN; CELL PROTEIN; DNAH5 PROTEIN; DNAI2 PROTEIN; DYNEIN ADENOSINE TRIPHOSPHATASE; UNCLASSIFIED DRUG;

ARTICLE; CHLAMYDOMONAS REINHARDTII; CILIARY DYSKINESIA; CILIARY MOTILITY; CONTROLLED STUDY; EXOME; EXOME SEQUENCING; FAMILY; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIMARY CILIARY DYSKINESIA; PRIORITY JOURNAL; RISK FACTOR; SIBLING;

ADULT; CHILD, PRESCHOOL; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; KARTAGENER SYNDROME; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, DNA;

CHLAMYDOMONAS REINHARDTII;

EID: 84872285578     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.11.003     Document Type: Article

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