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Human Mutation|August 31, 2002
Identification of seven novel mutations of F8C by DHPLCSabrina Frusconi, Ilaria Passerini, Francesca Girolami, et al.Human Mutation|January 17, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase geneMendel Tuchman, Naser Jaleel, Hiroki Morizono, et al.Human Mutation|January 17, 2002
Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphismsZi Qiang Yuan, Bruce Gottlieb, Lenore K Beitel, et al.Human Mutation|January 17, 2002
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiencyConsuelo Climent, Vicente RubioHuman Mutation|May 2, 2000
Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiencyA Bobba, E Marra, P Lattanzio, et al.Human Mutation|May 2, 2000
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor geneP Mozas, A Cenarro, F Civeira, et al.Human Mutation|December 24, 2002
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletionTiziana Bardaro, Geppino Falco, Angela Sparago, et al.Human Mutation|December 24, 2002
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseasesAlexey S KondrashovHuman Mutation|December 24, 2002
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexityNadia A Chuzhanova, Emmanuel J Anassis, Edward V Ball, et al.Human Mutation|December 24, 2002
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Claudia Rubie, Peter Lichtner, Jutta Gärtner, et al.Pageof 583