RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
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Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypesDiagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art reviewMutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male InfertilityLoss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexNovel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesEuropean Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The evolving spectrum of ciliopathies and respiratory disease.Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella.Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.General and specific promotions of flagellar assembly by a flagellar nucleoside diphosphate kinase.Primary ciliary dyskinesia: mechanisms and management.Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.
P2860
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P2860
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
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name
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@ast
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@en
type
label
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@ast
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@en
prefLabel
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@ast
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@en
P2093
P2860
P50
P1476
RSPH3 Mutations Cause Primary ...... Near Absence of Radial Spokes
@en
P2093
Aline Tamalet
Anissa Souayah
Annick Clement
Bruno Copin
Estelle Escudier
Esther Kott
Florence Dastot-Le Moal
Guy Montantin
Jacques Cadranel
Jacques de Blic
P2860
P304
P356
10.1016/J.AJHG.2015.05.004
P407
P577
2015-06-11T00:00:00Z