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Human Mutation|July 20, 2001
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosisM J Simovich, B Miller, H Ezzeldin, et al.
Human Mutation|July 20, 2001
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitisC Castellani, M Gomez Lira, L Frulloni, et al.
Human Mutation|July 20, 2001
Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in ArgentinaM Roqué, C P Godoy, M Castellanos, et al.
Human Mutation|June 1, 2001
Frequency of recent retrotransposition events in the human factor IX geneX Li, W A Scaringe, K A Hill, et al.
Human Mutation|June 1, 2001
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancerO Caluseriu, E L Cordisco, A Viel, et al.
Human Mutation|June 1, 2001
Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotypeB Suárez-Merino, J Bye, J McDowall, et al.
Human Mutation|April 24, 2001
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancersS M Lipkin, V Wang, D L Stoler, et al.
Human Mutation|April 24, 2001
Identification of four novel polymorphisms in the calcitonin/alpha-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depressionS Buervenich, F Xiang, O Sydow, et al.
Human Mutation|October 23, 2001
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiencyL D Notarangelo, P Mella, A Jones, et al.
Human Mutation|October 23, 2001
Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancerC Ruiz-Ponte, A Vega, A Carracedo, et al.
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