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Human Mutation|October 29, 1998
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutationsT Fukao, X Q Song, T Yoshida, et al.
Human Mutation|December 29, 2007
Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screeningCai-Xia Li, Qian Pan, Yong-Gang Guo, et al.
Human Mutation|January 5, 2008
Platelet receptor P2RY12 haplotypes predict restenosis after percutaneous coronary interventionsGoran Rudez, Douwe Pons, Frank Leebeek, et al.
Human Mutation|January 10, 2008
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementiaOdity Mukherjee, Jun Wang, Michael Gitcho, et al.
Human Mutation|January 12, 2008
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL geneMirjam M C Wamelink, Eduard A Struys, Erwin E W Jansen, et al.
Human Mutation|January 9, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionSaima Riazuddin, Sabiha Nazli, Zubair M Ahmed, et al.
Human Mutation|May 13, 2008
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutationsMarie-Noëlle Bonnet-Dupeyron, Patricia Combes, Paola Santander, et al.
Human Mutation|May 13, 2008
Genetic variation in human aquaporins and effects on phenotypes of water homeostasisMarco D Sorani, Geoffrey T Manley, Kathleen M Giacomini
Human Mutation|May 13, 2008
Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosisSarah Berwouts, Joan T Gordon, Clark A Rundell, et al.
Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
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