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Human Mutation|March 3, 1998
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern ItalyL Pastore, R Della Morte, G Frisso, et al.Human Mutation|March 3, 1998
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)G Malone, A Haworth, M J Schwarz, et al.Human Mutation|March 3, 1998
Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screeningT I Andersen, H G Eiken, F Couch, et al.Human Mutation|March 3, 1998
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome geneJ E Straughen, J Johnson, D McLaren, et al.Human Mutation|May 29, 1998
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndromeS Kumar, W J Kimberling, M D Weston, et al.Human Mutation|May 29, 1998
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII geneK Freson, K Peerlinck, T Aguirre, et al.Human Mutation|April 1, 1998
Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various agesV W Liu, C Zhang, C Y Pang, et al.Human Mutation|April 1, 1998
Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutationsM C Curia, D L Esposito, G Aceto, et al.Human Mutation|April 1, 1998
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 geneP Poorkaj, V Sharma, L Anderson, et al.Pageof 583