Founder mutation in RSPH4A identified in patients of hispanic descent with primary ciliary dyskinesia

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1352-1356

  Daniels, M Leigh Anne ^a   Leigh, Margaret W ^a   Davis, Stephanie D ^a,e   Armstrong, Michael C ^a   Carson, Johnny L ^a   Hazucha, Milan ^a   Dell, Sharon D ^b   Eriksson, Maria ^c   Collins, Francis S ^d   Knowles, Michael R ^a   Zariwala, Maimoona A ^a  

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

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c KAROLINSKA INSTITUTE   (Sweden)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cilia; Kartagener syndrome; RSPH4A; Sequencing

Indexed keywords

ARTICLE; CILIARY DYSKINESIA; CILIARY MOTILITY; CLINICAL ARTICLE; HISPANIC; HUMAN; LOSS OF FUNCTION MUTATION; MICROTUBULE; PRIORITY JOURNAL; WAVEFORM;

CILIA; KARTAGENER SYNDROME; RSPH4A; SEQUENCING;

ADOLESCENT; ADULT; ALLELES; CHILD; CILIA; FEMALE; FOUNDER EFFECT; GENOTYPE; HISPANIC AMERICANS; HUMANS; KARTAGENER SYNDROME; MALE; MUTATION; PROTEINS; RNA SPLICE SITES; YOUNG ADULT;

EID: 84884535109     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22371     Document Type: Article

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