TY - JOUR
T1 - Review
T2 - Diseases with DNA damage-processing defects
AU - Timme, T. L.
AU - Moses, R. E.
PY - 1988
Y1 - 1988
N2 - Xeroderma pigmentosum, Cockayne's syndrome, ataxia telangiectasia, Fanconi anemia, and Bloom's syndrome are autosomal recessive diseases with cellular defects in the ability to process DNA damage. Although these diseases are rare, they are seen occasionally in practice and provide insight into the mechanisms of DNA repair and replication in humans. The authors will review the clinical and cytological presentation of each disease, the genetic heterogeneity, as inferred by complementation analysis, and the differentiating characteristics of each. The authors will conclude with a discussion of the state of current research on each disease and possible directions for future research.
AB - Xeroderma pigmentosum, Cockayne's syndrome, ataxia telangiectasia, Fanconi anemia, and Bloom's syndrome are autosomal recessive diseases with cellular defects in the ability to process DNA damage. Although these diseases are rare, they are seen occasionally in practice and provide insight into the mechanisms of DNA repair and replication in humans. The authors will review the clinical and cytological presentation of each disease, the genetic heterogeneity, as inferred by complementation analysis, and the differentiating characteristics of each. The authors will conclude with a discussion of the state of current research on each disease and possible directions for future research.
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U2 - 10.1097/00000441-198801000-00009
DO - 10.1097/00000441-198801000-00009
M3 - Review article
C2 - 3276189
AN - SCOPUS:0023800238
SN - 0002-9629
VL - 295
SP - 40
EP - 48
JO - American Journal of the Medical Sciences
JF - American Journal of the Medical Sciences
IS - 1
ER -