@article{article, title = {{ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation}}, publisher = {{Wiley}}, url = {{}}, year = {{2013}}, month = {{6}}, author = {{Sarkozy A and Hicks D and Hudson J and Laval SH and Barresi R and Hilton-Jones D and Deschauer M and Harris E and Rufibach L and Hwang E and Bashir R et al}}, doi = {{10.1002/humu.22342}}, volume = {{34}}, journal = {{Human Mutation}}, issue = {{8}}, pages = {{1111-1118}}, note = {{Accessed on 2024/09/19}}}