Literature DB >> 22637216

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

María Andrea Delgado1, Patricia Sarrión, Nydia Azar, Lorena Zecchini, Hector Hugo Robledo, Florencio Segura, Susana Balcells, Daniel Grinberg, Raquel Dodelson de Kremer, Carla Gabriela Asteggiano.   

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Year:  2012        PMID： 22637216     DOI： 10.2106/JBJS.J.01920

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN： 0021-9355            Impact factor:   5.284


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  1 in total

1.  A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Authors:  M A Delgado; G Martinez-Domenech; P Sarrión; R Urreizti; L Zecchini; H H Robledo; F Segura; R Dodelson de Kremer; S Balcells; D Grinberg; C G Asteggiano
Journal:  Sci Rep       Date:  2014-09-18       Impact factor: 4.379
  1 in total

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