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Human Mutation|January 4, 2001
Is the Ala138Gly alteration of MEFV gene important for amyloidosis?E Akar, F Yalcinkaya, N AkarHuman Mutation|January 4, 2001
Prevalence of BRCA1 founder mutations in western PolandA Jasinska, W J KrzyzosiakHuman Mutation|January 4, 2001
Novel mutations in the GALK1 gene in patients with galactokinase deficiencyM Hunter, D Angelicheva, H L Levy, et al.Human Mutation|April 24, 2001
Variable expressivity and mutation databases: The androgen receptor gene mutations databaseB Gottlieb, L K Beitel, M A TrifiroHuman Mutation|April 24, 2001
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsC Campbell, R A Cucci, S Prasad, et al.Human Mutation|April 24, 2001
Nine novel APC mutations in Italian FAP patientsN Resta, A Stella, F Susca, et al.Human Mutation|March 10, 2001
Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changesT Nakagawa, T Ikemoto, T Takeuchi, et al.Human Mutation|April 24, 2001
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern ItalyR Liguori, A M Bianco, A Argiriou, et al.Human Mutation|June 30, 2000
The spectrum of patched mutations in a collection of Australian basal cell carcinomasT Evans, W Boonchai, S Shanley, et al.Human Mutation|June 30, 2000
Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutationsU S Khoo, H Y Ngan, A N Cheung, et al.Pageof 582