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Human Mutation|January 1, 1992
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) geneT V Strong, L S Smit, S Nasr, et al.
Human Mutation|October 23, 2001
10th International Hugo mutation database initiative meeting, 19 April 2001, Edinburgh, ScotlandS A Teebi, A J Cuticchia, R G Cotton
Human Mutation|October 23, 2001
Oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VCD M Feldser, S E Kern
Human Mutation|October 23, 2001
Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samplesA Grahn, A Elmgren, L Aberg, et al.
Human Mutation|October 23, 2001
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidismL D'Souza-Li, L Canaff, N Janicic, et al.
Human Mutation|October 23, 2001
A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndromeM Mizunuma, S Fujimori, H Ogino, et al.
Human Mutation|October 23, 2001
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresisL A Larsen, M Johnson, C Brown, et al.
Human Mutation|October 23, 2001
Fabry disease: 20 novel GLA mutations in 35 familiesD Blaydon, J Hill, B Winchester
Human Mutation|October 23, 2001
Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastomaA Jakubowska, S Zajaczek, O Haus, et al.
Human Mutation|October 23, 2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeS Salvi, C Dionisi-Vici, E Bertini, et al.
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