Mutations of DNAI1 in primary ciliary dyskinesia: Evidence of founder effect in a common mutation

American Journal of Respiratory and Critical Care Medicine

Volumn 174, Issue 8, 2006, Pages 858-866

  Zariwala, Maimoona A ^a   Leigh, Margaret W ^b   Ceppa, Franck ^b   Kennedy, Marcus P ^b   Noone, Peadar G ^b   Carson, Johnny L ^b   Hazucha, Milan J ^b   Lori, Adriana ^b   Horvath, Judit ^b   Olbrich, Heike ^b   Loges, Niki T ^b   Bridoux, Anne Marie ^b   Pennarun, Gaëlle ^b   Duriez, Bénédicte ^b   Escudier, Estelle ^b   Mitchison, Hannah M ^b   Chodhari, Rahul ^b   Chung, Eddie M K ^b   Morgan, Lucy C ^b   De Iongh, Robbert U ^b   Rutland, Jonathan ^b   Pradal, Ugo ^b   Omran, Heymut ^b   Amselem, Serge ^b   Knowles, Michael R ^b   more..

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

Cilia; Dextrocardia; Dynein; Kartagener syndrome; Mutation

Indexed keywords

COMPLEMENTARY DNA; DYNEIN ADENOSINE TRIPHOSPHATASE; PROTEIN DNAI1; RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CILIARY DYSKINESIA; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE CLUSTER; GENE FREQUENCY; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NOSE MUCOSA; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFECT; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA; DYNEIN ATPASE; EXONS; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; KARTAGENER SYNDROME; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 33749843285     PISSN: 1073449X     EISSN: 1073449X     Source Type: Journal    
DOI: 10.1164/rccm.200603-370OC     Document Type: Article

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