TY - JOUR
T1 - DNA helicases in inherited human disorders
AU - Ellis, Nathan A.
PY - 1997/6
Y1 - 1997/6
N2 - Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and α-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
AB - Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and α-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
UR - http://www.scopus.com/inward/record.url?scp=0030861685&partnerID=8YFLogxK
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U2 - 10.1016/S0959-437X(97)80149-9
DO - 10.1016/S0959-437X(97)80149-9
M3 - Article
C2 - 9229111
AN - SCOPUS:0030861685
VL - 7
SP - 354
EP - 363
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
SN - 0959-437X
IS - 3
ER -