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Human 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 Trifiro
Human 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.
Human Mutation|June 30, 2000
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VIIR Youil, T J Toner, E Bull, et al.
Human Mutation|June 22, 2000
Novel frameshift mutations in the RP2 gene and polymorphic variantsD L Thiselton, I Zito, C Plant, et al.
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