Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

BACKGROUND: Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns i...

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Detalles Bibliográficos
Autores principales: Ishimaru, Daichi, Gotoh, Masanori, Takayama, Shinichiro, Kosaki, Rika, Matsumoto, Yoshihiro, Narimatsu, Hisashi, Sato, Takashi, Kimata, Koji, Akiyama, Haruhiko, Shimizu, Katsuji, Matsumoto, Kazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784393/
https://www.ncbi.nlm.nih.gov/pubmed/26961984
http://dx.doi.org/10.1186/s12863-016-0359-4

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