Additional file 1 of Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Tornero, C.; Navarro-Compán, V.; Tenorio, J.; García-Carazo, S.; Buño, A.; Monjo, I.; Plasencia-Rodriguez, C.; Iturzaeta, J.; Lapunzina, P.; Heath, K.; Balsa, A.; Aguado, P.

doi:10.6084/m9.figshare.11863722.v1

13023_2020_1315_MOESM1_ESM.docx (56.31 kB)

Additional file 1 of Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

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posted on 2020-02-18, 05:01 authored by C. Tornero, V. Navarro-Compán, J. Tenorio, S. García-Carazo, A. Buño, I. Monjo, C. Plasencia-Rodriguez, J. Iturzaeta, P. Lapunzina, K. Heath, A. Balsa, P. Aguado

Additional file 1: Table S1. List of subjects displaying ALPL disease causing variants observed in the cohort according to the transcript NM_000478.4, clinical features associated and family history available.

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Alexion Pharmaceuticals

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Metabolic bone diseases Hypophosphatasia Hypophosphatasaemia Alkaline phosphatase ALPL

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Additional file 1 of Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

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