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Loss‐of‐function mutations in CCDC114 cause primary ciliary dyskinesia
Author(s) -
Wu DH,
Singaraja RR
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12127
Subject(s) - primary ciliary dyskinesia , cilium , genetics , exome sequencing , biology , mutation , gene , dynein , dyskinesia , splice , medicine , microtubule , disease , pathology , bronchiectasis , lung , parkinson's disease
Splice‐site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia Onoufriadis et al. (2013) American Journal of Human Genetics 92:88–98. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia Knowles et al. (2013) American Journal of Human Genetics 92:99–106.