Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Primary ciliary dyskinesia 3 is an autosomal recessive disorder caused by mutations of the DNAH5 gene.
| 1. |
Omran H et al. (2000) Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. 
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| 2. |
Olbrich H et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
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| 3. |
Ibañez-Tallon I et al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.
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| 4. |
Tan SY et al. (2007) Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
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| 5. |
Failly M et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
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| 6. |
Knowles MR et al. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
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| 7. |
None (1976) A human syndrome caused by immotile cilia.
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| 8. |
El Zein L et al. (2003) Lateralization defects and ciliary dyskinesia: lessons from algae.
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| 9. |
OMIM.ORG article Omim 608644
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