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Human Mutation|March 27, 1999
A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populationsA T Merryweather-Clarke, H Simonsen, J D Shearman, et al.
Human Mutation|March 27, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. OnlineA Taillandier, L Zurutuza, F Muller, et al.
Human Mutation|May 25, 1999
Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21G Ohlsson, J Müller, M Schwartz
Human Mutation|May 25, 1999
Detection of the deltaF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technologyG Feriotto, M Lucci, N Bianchi, et al.
Human Mutation|May 25, 1999
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. OnlineJ F McManus, C G Begley, S Sassa, et al.
Human Mutation|April 24, 1999
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. OnlineR B Gordon, A J Cox, P A Dawson, et al.
Human Mutation|April 24, 1999
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. OnlineA Donnelly, E Haan, J Manson, et al.
Human Mutation|October 3, 2000
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis familiesL Huopaniemi, H Tyynismaa, A Rantala, et al.
Human Mutation|October 3, 2000
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changesA Splendore, E O Silva, L G Alonso, et al.
Human Mutation|October 3, 2000
Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysisG Gat-Yablonski, H Mandel, B Fowler, et al.
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