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Human Mutation|March 26, 2003
The molecular basis of phenylketonuria in LithuaniaJ Kasnauskiene, S Giannattasio, P Lattanzio, et al.Human Mutation|March 26, 2003
The molecular basis of phenylalanine hydroxylase deficiency in CroatiaJohannes Zschocke, Astrid Preusse, Vladimir Sarnavka, et al.Human Mutation|March 26, 2003
Mutational spectrum in German patients with phenylalanine hydroxylase deficiencyChrista Aulehla-Scholz, Helmut HeilbronnerHuman Mutation|March 26, 2003
Mutations in the AUH gene cause 3-methylglutaconic aciduria type IT B Nga Ly, Verena Peters, K Michael Gibson, et al.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.Pageof 583