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J Bone Joint Surg Am. 2012 Jun 6;94(11):e76. doi: 10.2106/JBJS.J.01920.

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

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1
Centro de Estudio de las Metabolopatías Congénitas, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.
PMID:
22637216
DOI:
10.2106/JBJS.J.01920
[Indexed for MEDLINE]
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