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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
10.1136/jmedgenet-2012-100867
000305803800009
22693285
http://europepmc.org/abstract/med/22693285
Blanchon
S.
author
Legendre
M.
author
Copin
B.
author
Duquesnoy
P.
author
Montantin
G.
author
Kott
E.
author
Dastot
F.
author
Jeanson
L.
author
Cachanado
M.
author
Rousseau
A.
author
Papon
J.F.
author
Beydon
N.
author
Brouard
J.
author
Crestani
B.
author
Deschildre
A.
author
Désir
J.
author
Dollfus
H.
author
Leheup
B.
author
Tamalet
A.
author
Thumerelle
C.
author
Vojtek
A.M.
author
Escalier
D.
author
Coste
A.
author
de Blic
J.
author
Clément
A.
author
Escudier
E.
author
Amselem
S.
author
article
2012-06
Journal of medical genetics
1468-6244
0022-2593
journal
49
6
410-416
Adolescent
Adult
Aged
Axoneme/genetics
Axoneme/pathology
Child
Child, Preschool
Cilia/genetics
Cilia/pathology
Cohort Studies
Cytoskeletal Proteins
DNA Mutational Analysis
Female
Humans
Infant
Kartagener Syndrome/genetics
Male
Middle Aged
Mutation/genetics
Phenotype
Proteins/genetics
Statistics, Nonparametric
eng
60_published
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish