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XYLT1 Mutations in Desbuquois Dysplasia Type 2

By Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich and Valérie Cormier-Daire

Abstract

International audienc

Topics: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM]
Publisher: 'Elsevier BV'
Year: 2014
DOI identifier: 10.1016/j.ajhg.2014.01.020
OAI identifier: oai:HAL:hal-01704452v1
Provided by: HAL Descartes
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