Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die primäre ziliäre Dyskinesie 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen des DNAH5-Gens hervorgerufen wird.
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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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Olbrich H et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
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Ibañez-Tallon I et al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.
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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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None (1976) A human syndrome caused by immotile cilia.
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El Zein L et al. (2003) Lateralization defects and ciliary dyskinesia: lessons from algae.
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OMIM.ORG article Omim 608644
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