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Human Mutation|September 27, 2002
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing lossAlessandro Ferraris, Eric Rappaport, Rosa Santacroce, et al.Human Mutation|September 27, 2002
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish originSylvain Hanein, Isabelle Perrault, Päivi Olsen, et al.Human Mutation|April 4, 2003
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutationSahar Sibani, Daniel Leclerc, Ilan S Weisberg, et al.Human Mutation|April 4, 2003
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancerAnnegien Broeks, Jos H M Urbanus, Peter de Knijff, et al.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 ZschockePageof 583