DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Kessler, Kristin ^a   Wunderlich, Ina ^a   Uebe, Steffen ^a   Falk, Nathalie S ^a   Gießl, Andreas ^a   Helmut Brandstätter, Johann ^a   Popp, Bernt ^a   Klinger, Patricia ^a   Ekici, Arif B ^a   Sticht, Heinrich ^a   Dörr, Helmuth Günther ^a   Reis, Andre ^a   Roepman, Ronald ^b   Seemanova , Eva ^c   Thiel, Christian T ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOPLASMIC DYNEIN; DYNC2LI1 PROTEIN, HUMAN; STOP CODON;

CHEMISTRY; DNA SEQUENCE; EUKARYOTIC FLAGELLUM; EXOME; FIBROBLAST; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; HETEROZYGOTE; HUMAN; METABOLISM; MUTATION; PROTEIN TERTIARY STRUCTURE; STOP CODON;

CILIA; CODON, NONSENSE; CYTOPLASMIC DYNEINS; EXOME; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; HETEROZYGOTE; HUMANS; MUTATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA;

EID: 84934283321     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep11649     Document Type: Article

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