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Human Mutation|March 26, 2003
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control regionMartin Horan, David S Millar, Jürgen Hedderich, et al.Human Mutation|March 26, 2003
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onsetJ Häberle, E Schmidt, S Pauli, et al.Human Mutation|March 26, 2003
A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766TPaula M Hempen, Harsha Kurpad, Eric S Calhoun, et al.Human Mutation|March 26, 2003
Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutationsMercedes Duran, Eva Esteban-Cardeñosa, Eladio Velasco, et al.Human Mutation|October 29, 2002
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutationsChikahiko Numakura, Changqing Lin, Tohru Ikegami, et al.Human Mutation|October 29, 2002
Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancerYunqing Li, Sizhong Zhang, Cuiying Xiao, et al.Human Mutation|October 29, 2002
The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequencesSusanne Schulz, Undraga Schagdarsurengin, Petra Greiser, et al.Human Mutation|November 21, 2002
SLC26A3 mutations in congenital chloride diarrheaSiru Mäkelä, Juha Kere, Christer Holmberg, et al.Human Mutation|November 21, 2002
Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypesDaniel W NebertHuman Mutation|November 21, 2002
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patientsKarin Michels-Rautenstrauss, Christian Mardin, Nina Wakili, et al.Pageof 574