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Human Mutation|December 26, 2003
Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese populationHiromi Fukushima-Uesaka, Yoshiro Saito, Hidemi Watanabe, et al.Human Mutation|January 15, 2004
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 geneLan Kluwe, Reiner Siebert, Stefan Gesk, et al.Human Mutation|January 15, 2004
Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within lociB Myhre Dupuy, M Stenersen, T Egeland, et al.Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.Human Mutation|January 15, 2004
Novel TP53 gene mutations in tumors of Russian patients with breast cancer detected using a new solid phase chemical cleavage of mismatch method and identified by sequencingA Lambrinakos, M Yakubovskaya, J J Babon, et al.Human Mutation|January 15, 2004
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSFC Houdayer, M Gauthier-Villars, A Laugé, et al.Human Mutation|January 15, 2004
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutationYin-Hsiu Chien, Shu-Chuan Chiang, Aichu Huang, et al.Human Mutation|November 4, 2004
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1Andrea Zatkova, Ludwine Messiaen, Ina Vandenbroucke, et al.Human Mutation|November 4, 2004
LDL-receptor mutations in EuropeGeorge V Z Dedoussis, Hartmut Schmidt, Janine GenschelHuman Mutation|November 4, 2004
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150CLeida B Rozeman, Luca Sangiorgi, Inge H Briaire-de Bruijn, et al.Pageof 582