Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

Pediatric Pulmonology

Volumn 47, Issue 9, 2012, Pages 864-875

  Djakow, Jana ^a   Svobodová, Tamara ^a   Hrach, Karel ^a,b   Uhlík, Jiří ^c   Cinek, Ondřej ^a   Pohunek, Petr ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b J E PURKINJE UNIVERSITY   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

DNAH5 gene; DNAI1 gene; founder mutations; hot spot exons; molecular genetics; primary ciliary dyskinesia; sequencing

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DYNEIN HEAVY CHAIN 11; DYNEIN HEAVY CHAIN 5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BRONCHUS MUCOSA; CELL MOTILITY; CHILD; CHRONIC OTITIS MEDIA; CILIARY DYSKINESIA; CILIATED EPITHELIUM; CLINICAL ARTICLE; CONTROLLED STUDY; COUGHING; CZECH REPUBLIC; EXON; FOLLOW UP; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEALTH CARE COST; HETEROZYGOSITY; HIGH SPEED VIDEOMICROSCOPY; HUMAN; INTRON; LOWER RESPIRATORY TRACT INFECTION; MICROSCOPY; NOSE MUCOSA; PHENOTYPE; PLEURA EFFUSION; PRIORITY JOURNAL; RHINORRHEA;

ADULT; ALLELES; AXONEMAL DYNEINS; CHILD; COHORT STUDIES; COST CONTROL; CZECH REPUBLIC; DATABASES, FACTUAL; EXONS; GENETIC TESTING; GENOTYPE; HUMANS; KARTAGENER SYNDROME; MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84865084465     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.22520     Document Type: Article

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