Associated Papers
A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
Yao XJ et al.
Bmc Pulmonary Medicine, 2024
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH et al.
Genome Medicine, 2017
29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M et al.
Journal of Medical Genetics, 2009
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT et al.
American Journal of Human Genetics, 2008
Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.
Olbrich H et al.
Pediatric Research, 2006
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Olbrich H et al.
Nature Genetics, 2002
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