Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1

American Journal of Human Genetics

Volumn 88, Issue 5, 2011, Pages 599-607

  Mazor, Masha ^a   Alkrinawi, Soliman ^b   Chalifa Caspi, Vered ^a   Manor, Esther ^a,b   Sheffield, Val C ^c   Aviram, Micha ^b   Parvari, Ruti ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AXONEMAL DYNEIN; DYNEIN LIGHT CHAIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CILIARY DYSKINESIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; AXONEMAL DYNEINS; CILIA; DNA MUTATIONAL ANALYSIS; FEMALE; FLAGELLA; GENE EXPRESSION REGULATION; HOMOZYGOTE; HUMANS; INFERTILITY, MALE; KARTAGENER SYNDROME; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; TUBULIN;

IDAS;

EID: 79955856801     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.03.018     Document Type: Article

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