Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia
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DOI: 10.1136/jmedgenet-2017-104964
Abstract: Background A genetic diagnosis has been rarely performed in benign familial hyperphosphatasaemia, and molecular mechanism largely remains unclear. Objectives We encountered a case with benign familial hyperphosphatasaemia of intestinal alkaline phosphatase (IAP). To elucidate the… read more here.
Keywords: benign familial; iap; familial hyperphosphatasaemia; intestinal alkaline ... See more keywords