Open AccessClinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene
Author(s) -
Chiara Redaelli,
Rosalind A. Coleman,
Laura Moro,
Catherine Dacou-Voutetakis,
Solaf M. Elsayed,
Daniele Pastori,
Agostino Colli,
Donatella Mela,
Roberto Colombo,
Daniela Tavian
Publication year - 2010
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/dgc4-hz06
Subject(s) - gene , characterization (materials science) , genetics , medicine , biology , physics , optics