Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Onoufriadis, Alexandros

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. [electronic resource] - Journal of medical genetics Jan 2014 - 61-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2013-101938 doi


Armadillo Domain Proteins--chemistry
Cilia--genetics
Dyneins--chemistry
Exome
Female
Genome, Human
Genome-Wide Association Study
High-Throughput Nucleotide Sequencing
Humans
Kartagener Syndrome--genetics
Male
Models, Molecular
Mutation
Pedigree
Phenotype
Protein Binding
Protein Conformation
Protein Interaction Domains and Motifs