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8. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Krawitz PM; Murakami Y; Hecht J; Krüger U; Holder SE; Mortier GR; Delle Chiaie B; De Baere E; Thompson MD; Roscioli T; Kielbasa S; Kinoshita T; Mundlos S; Robinson PN; Horn D Am J Hum Genet; 2012 Jul; 91(1):146-51. PubMed ID: 22683086 [TBL] [Abstract][Full Text] [Related]
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13. Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Horn D; Wieczorek D; Metcalfe K; Barić I; Paležac L; Cuk M; Petković Ramadža D; Krüger U; Demuth S; Heinritz W; Linden T; Koenig J; Robinson PN; Krawitz P Eur J Hum Genet; 2014 Jun; 22(6):762-7. PubMed ID: 24129430 [TBL] [Abstract][Full Text] [Related]
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