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A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Caterina Marconi, Roberto Cusano, et al.
European Journal of Human Genetics, Volume 21, page 613--619 - 2013

Références BibTex

@Article{MCA13,
  author       = {Marconi, C. and Cusano, R. and al., e.},
  title        = {A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree},
  journal      = {European Journal of Human Genetics},
  volume       = {21},
  pages        = {613--619},
  year         = {2013},
  publisher    = {Macmillan},
  keywords     = {gnathodiaphyseal dysplasia; jawbone disease; anoctamin 5; calcium-activated chloride channel},
  url          = {http://publications.crs4.it/pubdocs/2013/MCA13},
}

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