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Human Mutation|January 1, 1996
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfectaJ Zhuang, G Tromp, H Kuivaniemi, et al.
Human Mutation|January 1, 1996
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon agingL M 't Hart, J J Jansen, H H Lemkes, et al.
Human Mutation|January 1, 1996
Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arraysM T Cronin, R V Fucini, S M Kim, et al.
Human Mutation|January 1, 1996
Sensitive and fast mutation detection by solid phase chemical cleavageL L Hansen, J Justesen, T A Kruse
Human Mutation|January 1, 1996
Mutations in pyruvate kinaseE Beutler, L Baronciani
Human Mutation|January 1, 1996
Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficienciesP Maillet, J Delaunay, F Baklouti
Human Mutation|October 29, 1998
Ten novel mutations found in AniridiaM T Wolf, B Lorenz, A Winterpacht, et al.
Human Mutation|January 1, 1997
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung diseaseC Eng, L M Mulligan
Human Mutation|January 1, 1997
Screening and biochemical characterization of transthyretin variants in the Portuguese populationI L Alves, K Altland, M R Almeida, et al.
Human Mutation|January 1, 1997
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiencyH L Rehm, G A Gutiérrez-Espeleta, R Garcia, et al.
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