Deletion hotspot in the argininosuccinate lyase gene: Association with topoisomerase II and DNA polymerase α sites

Human Mutation

Volumn 27, Issue 11, 2006, Pages 1065-1071

  Christodoulou, John ^a,b,c,e   Craig, Hugh J ^a,b   Walker, David C ^a   Weaving, Linda S ^a   Pearson, Christopher E ^a,b   McInnes, Roderick R ^a,b,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^e UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Argininosuccinate lyase; ASL; CFTR; Deletion hotspot; ESE; Slipped mispairing; Urea cycle

Indexed keywords

ARGININOSUCCINATE LYASE; DNA DIRECTED DNA POLYMERASE ALPHA; DNA TOPOISOMERASE (ATP HYDROLYSING);

ALLELE; ARGININOSUCCINATE LYASE DEFICIENCY; ARTICLE; CFTR GENE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; GENE; GENE DELETION; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ARGININOSUCCINATE LYASE; BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA POLYMERASE I; DNA TOPOISOMERASES, TYPE II; EXONS; FRAMESHIFT MUTATION; GENOME, HUMAN; GENOMIC INSTABILITY; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 33750910159     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20352     Document Type: Article

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