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Human Mutation|January 1, 1993
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant PduarteJ Hildesheim, G Kinsley, M Bissell, et al.Human Mutation|January 1, 1996
Novel mutations and polymorphisms in the Fanconi anemia group C geneR A Gibson, N V Morgan, L H Goldstein, et al.Human Mutation|January 1, 1996
Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS)A Tripatara, D S Kerr, M M Lusk, et al.Human Mutation|January 1, 1996
Single base-pair substitutions in pathology and evolution: two sides to the same coinM Krawczak, D N CooperHuman Mutation|January 1, 1996
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patientA M Birot, O Bouton, R Froissart, et al.Human Mutation|January 1, 1996
Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresisM L Peacock, M J Borst, J D Sweet, et al.Human Mutation|January 1, 1996
Molecular analysis of the TP53 gene in Barrett's adenocarcinomaM P Audrézet, M Robaszkiewicz, B Mercier, et al.Human Mutation|January 1, 1996
Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphismsM Nakao, J S Sutcliffe, A L BeaudetHuman Mutation|January 1, 1996
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analysesE M De Vries, D O Ricke, T N De Vries, et al.Human Mutation|January 1, 1996
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populationsJ W Kim, B B Liou, M Y Lai, et al.Pageof 583