TY - JOUR
T1 - Molecular analysis of human DNA repair genes and syndromes
AU - Hoeijmakers, J. H.J.
AU - Weeda, G.
AU - Troelstra, C.
AU - Koken, M. H.M.
AU - Van Der Spek, P. J.
AU - Bootsma, D.
PY - 1993/1
Y1 - 1993/1
N2 - Cells are equipped with an intricate network of DNA repair pathways to prevent deleterious consequences of DNA damage induced by numerous chemicals and physical agents (UV, X-rays). The impact of these repair systems is apparent from a number of genetic diseases, which are characterized by abnormalities in the processing of DNA damage and which, in general, predispose to cancer. Two rare, autosomal recessive human repair disorders, Xeroderma pigmentosum (XP) and Cockayne’s syndrome (CS), display a typical hypersensitivity to sun (UV) light, neurodegeneration and -in the case of XP- pigmentation abnormalities and a high incidence of skin cancer. Cell fusion has revealed extensive genetic heterogeneity in both disorders: a total of at least 10 complementation groups can be discerned. [...]
AB - Cells are equipped with an intricate network of DNA repair pathways to prevent deleterious consequences of DNA damage induced by numerous chemicals and physical agents (UV, X-rays). The impact of these repair systems is apparent from a number of genetic diseases, which are characterized by abnormalities in the processing of DNA damage and which, in general, predispose to cancer. Two rare, autosomal recessive human repair disorders, Xeroderma pigmentosum (XP) and Cockayne’s syndrome (CS), display a typical hypersensitivity to sun (UV) light, neurodegeneration and -in the case of XP- pigmentation abnormalities and a high incidence of skin cancer. Cell fusion has revealed extensive genetic heterogeneity in both disorders: a total of at least 10 complementation groups can be discerned. [...]
UR - https://www.scopus.com/pages/publications/0027393557
M3 - Article
AN - SCOPUS:0027393557
SN - 0020-7136
VL - 53
SP - 162
EP - 163
JO - International Journal of Cancer
JF - International Journal of Cancer
IS - 1
ER -
