Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria von Todd, David J., Hughes, Anne E., Ennls, Kevin T., Ward, Alana J., Burrows, Desmond, C.Nevin, Norman

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Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene von Graham, Colin A., Goon, Peter K-C, Hill, Alison J.M., Norman, C.Nevin

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