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Restriction site mutation, a method for the detection of DNA base changes following mutagen exposure

โœ Scribed by M. Shamsher; D.O.F. Skibinski; E.M. Parry; J.M. Parry


Book ID
113252174
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
90 KB
Volume
252
Category
Article
ISSN
0165-1161

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The level of beta-hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were studied in an Argentinean deme with high incidence of infantile Sandhoff disease. Two mutations were previously identified in one of two Sandhoff patients from the region, a splice