Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX4/FANCP

Human Mutation

Volumn 34, Issue 1, 2013, Pages 93-96

  Schuster, Beatrice ^a   Knies, Kerstin ^a   Stoepker, Chantal ^b   Velleuer, Eunike ^c   Friedl, Richard ^a   Gottwald Mühlhauser, Birgit ^a   de Winter, Johan P ^b   Schindler, Detlev ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Fanconi anemia; FANCP, SLX4; Nuclear localization signal

Indexed keywords

EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PROTEIN EME1; PROTEIN MUS81; PROTEIN SLX4; PROTEIN XPF; UNCLASSIFIED DRUG;

ARTICLE; CELL CYCLE ARREST; CELL CYCLE G2 PHASE; EXOME; EXON; FANCONI ANEMIA; FANCP GENE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INTRON; NONSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN MODIFICATION; PROTEIN PROTEIN INTERACTION; RNA SPLICING; SLX4 GENE;

BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXOME; FANCONI ANEMIA; FEMALE; HUMANS; IMMUNOBLOTTING; MOLECULAR SEQUENCE DATA; MUTATION; RECOMBINASES; RNA SPLICE SITES; YOUNG ADULT;

EID: 84871618131     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22221     Document Type: Article

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