A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree
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 = {https://publications.crs4.it/pubdocs/2013/MCA13},
}