Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
ContributorsSchwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; Rossier, Colette; de Santi, Margherita M.; Olbrich, Heike; Fliegauf, Manfred; Failly, Mike; Liebers, Uta; Collura, Mirella; Gaedicke, Gerhard; Mundlos, Stefan; Wahn, Ulrich; Blouin, Jean-Louis; Niggemann, Bodo; Omran, Heymut; Antonarakis, Stylianos; Bartoloni, Lucia
Published inHuman mutation, vol. 29, no. 2, p. 289-298
Publication date2008
Abstract
Keywords
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Axoneme/ultrastructure
- Cilia/ultrastructure
- Dynein ATPase/chemistry/genetics/metabolism
- Epithelial Cells/metabolism/pathology
- Female
- Humans
- Immunohistochemistry
- Infant
- Kartagener Syndrome/genetics
- Male
- Middle Aged
- Molecular Sequence Data
- Mutant Proteins/chemistry
- Mutation/genetics
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide/genetics
Affiliation entities
Citation (ISO format)
SCHWABE, Georg C. et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. In: Human mutation, 2008, vol. 29, n° 2, p. 289–298. doi: 10.1002/humu.20656
Main files (1)
Article (Accepted version)
Identifiers
- PID : unige:1798
- DOI : 10.1002/humu.20656
- PMID : 18022865
ISSN of the journal1059-7794