Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair

Blood

Volumn 117, Issue 7, 2011, Pages 2247-2256

  Colnaghi, Luca ^a,b   Jones, Mathew J K ^a   Cotto Rios, Xiomaris M ^a   Schindler, Detlev ^c   Hanenberg, Helmut ^d,e   Huang, Tony T ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d HEINRICH HEINE UNIVERSITY   (Germany)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; FANCONI ANEMIA GROUP D2 PROTEIN; MUTANT PROTEIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA CROSS LINKING; DNA REPAIR; FANCI GENE; FANCONI ANEMIA; GENE; HUMAN; HUMAN CELL; MUTATION; NUCLEAR LOCALIZATION SIGNAL; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN STRUCTURE; UBIQUITINATION;

EID: 79951833152     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-07-295758     Document Type: Article

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