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Human Mutation|October 29, 1998
Rapid and nonisotopic SSCP-based analysis of the BAT-26 mononucleotide repeat for identification of the replication error phenotype in human cancersB Iacopetta, R HamelinHuman Mutation|January 1, 1993
Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcriptsR G Roberts, D R Bentley, M BobrowHuman Mutation|January 1, 1993
Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutationsB Mercier, W Lissens, M P Audrézet, et al.Human Mutation|January 1, 1993
Identification of mutations in Danish choroideremia familiesM Schwartz, T Rosenberg, J A van den Hurk, et al.Human Mutation|January 1, 1993
Molecular characterization of beta-thalassemia in EgyptiansI R Hussein, S A Temtamy, A el-Beshlawy, et al.Human Mutation|January 1, 1997
Mutations in the XPD gene leading to xeroderma pigmentosum symptomsT Kobayashi, I Kuraoka, M Saijo, et al.Human Mutation|January 1, 1997
Mutations in purine nucleoside phosphorylase deficiencyM L Markert, B D Finkel, T M McLaughlin, et al.Human Mutation|January 1, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR geneM Macek, B Mercier, A Macková, et al.Human Mutation|January 1, 1997
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A geneR MyerowitzHuman Mutation|January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung diseaseM Seri, L Yin, V Barone, et al.Pageof 578