Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita

Human Molecular Genetics

Volumn 18, Issue 23, 2009, Pages 4546-4551

  Grozdanov, Petar N ^a,b   Fernandez Fuentes, Narcis ^a,c   Fiser, Andras ^a   Meier, U Thomas ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN; MICRORNA; NUCLEAR PROTEIN; PROTEIN SHQ 1; RIBONUCLEOPROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; TELOMERASE; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; BIOGENESIS; BONE MARROW DEPRESSION; CARBOXY TERMINAL SEQUENCE; DRUG TARGETING; DYSKERATOSIS CONGENITA; GENE MUTATION; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN BINDING; PROTEIN INTERACTION; RIBOSOME;

AMINO ACID MOTIFS; CARRIER PROTEINS; DYSKERATOSIS CONGENITA; HUMANS; MOLECULAR CONFORMATION; MUTATION; NUCLEAR PROTEINS; PROTEIN BINDING; RIBONUCLEOPROTEINS;

EID: 70449403276     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp416     Document Type: Article

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