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Human Mutation|July 17, 1999
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers familiesA M Westerman, M M Entius, P P Boor, et al.
Human Mutation|July 17, 1999
Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysisG Ohlsson, J Müller, N E Skakkebaek, et al.
Human Mutation|July 17, 1999
A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genesF Laccone, R Maiwald, S Bingemann
Human Mutation|July 17, 1999
Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site. Mutations in brief no. 246. OnlineL M Colgin, A F Hackmann, R J Monnat
Human Mutation|July 17, 1999
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. OnlineK Kapelari, Z Ghanaati, H Wollmann, et al.
Human Mutation|July 29, 1999
The protein truncation test: A reviewJ T Den Dunnen, G J Van Ommen
Human Mutation|July 29, 1999
Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membraneS Beck, D Penque, S Garcia, et al.
Human Mutation|July 29, 1999
Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypesJ Feng, C H Buzin, S H Tang, et al.
Human Mutation|April 17, 1999
The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. OnlineC E Beesley, A H Child, M H Yacoub
Human Mutation|April 11, 2001
A semi-automated system for analysis and storage of SNPsV Lehnert, J Holzwarth, M Ott, et al.
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