Disease-causing missense mutations in human DNA helicase disorders

Mutation Research - Reviews in Mutation Research

Volumn 752, Issue 2, 2013, Pages 138-152

  Suhasini, Avvaru N ^a,b   Brosh, Robert M ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b University of Texas Health Science Center at San Antonio   (United States)

Author keywords

DNA repair; Genomic stability; Helicase; Human genetic disease; Mutation; Replication

Indexed keywords

BRCA1 PROTEIN; HELICASE; RECQ HELICASE; DNA HELICASE;

BALLER GEROLD SYNDROME; BLOOM SYNDROME; CHROMOSOMAL INSTABILITY; COCKAYNE SYNDROME; COFS SYNDROME; DNA BINDING; DNA DAMAGE; DNA HELICASE DISORDER; DNA METABOLISM; DNA REPAIR; ENZYME ACTIVITY; FANCONI ANEMIA; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENETIC DISORDER; HUMAN; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; NIJMEGEN BREAKAGE SYNDROME; NONHUMAN; OPHTHALMOPLEGIA; PATHOGENESIS; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; RNA INTERFERENCE; RNA METABOLISM; ROTHMUND THOMSON SYNDROME; SKIN CANCER; TRICHOTHIODYSTROPHY; WARSAW BREAKAGE SYNDROME; WERNER SYNDROME; XERODERMA PIGMENTOSUM; ENZYMOLOGY; GENETICS; PATHOLOGY;

BLOOM SYNDROME; COCKAYNE SYNDROME; DNA HELICASES; FANCONI ANEMIA; HUMANS; MUTATION, MISSENSE; XERODERMA PIGMENTOSUM;

EID: 84876807755     PISSN: 13835742     EISSN: 13882139     Source Type: Journal    
DOI: 10.1016/j.mrrev.2012.12.004     Document Type: Review

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