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Human Mutation|April 4, 2003
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancerJonine L Bernstein, Sharon Teraoka, Robert W Haile, et al.Human Mutation|April 4, 2003
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 geneBarbara M van der Sluijs, Baziel G M van Engelen, Lies H HoefslootHuman Mutation|April 4, 2003
Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese populationHiroshi Yagasaki, Tsukasa Oda, Daiki Adachi, et al.Human Mutation|March 26, 2003
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAHAngel L Pey, Lourdes R Desviat, Alejandra Gámez, et al.Human Mutation|March 26, 2003
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locusMary Gable, Margaret Williams, Anne Stephenson, et al.Human Mutation|March 26, 2003
A role for overdominant selection in phenylketonuria? Evidence from molecular dataMichael Krawczak, Johannes ZschockeHuman 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.Pageof 574