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Human Mutation|January 1, 1992
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypesL Cremonesi, M Ferrari, E Belloni, et al.
Human Mutation|July 23, 2003
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung diseaseGuido Fitze, Mandy Schierz, Eberhard Kuhlisch, et al.
Human Mutation|July 23, 2003
Founder mutation in the BRCA1 gene in Malay breast cancer patients from SingaporeAnn S G Lee, G H Ho, P C Oh, et al.
Human Mutation|July 23, 2003
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]Paola Origone, Carlo Bellini, Debora Sambarino, et al.
Human Mutation|July 23, 2003
Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitusHyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, et al.
Human Mutation|January 1, 1992
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutationsT R Prezant, N Fischel-Ghodsian
Human Mutation|January 1, 1992
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase geneR C Eisensmith, S L Woo
Human Mutation|January 1, 1992
Partial gene duplication as a cause of human diseaseX Hu, R G Worton
Human Mutation|September 5, 2003
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiencyP J Wightman, R Santer, A Ribes, et al.
Human Mutation|September 5, 2003
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLCYi-Ning Su, Chien-Nan Lee, Chia-Cheng Hung, et al.
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