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[A missense mutation (c.346G>A) of TNSALP gene, which converts Ala to Thr at position 116 (according to standardized nomenclature), was reported in dominantly transmitted hypophosphatasia patients (A.S. Lia-Baldini et al.Hum Genet.109 (2001) 99-108).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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