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Paula S. Henthorn, Michael Raducha, Kenton N. Fedde, Mary Ann Lafferty, Michael Peter Whyte;
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
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Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia.
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