Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database. Issue 11 (17th September 2014) - Morrone, Amelia
Abstract The mutations in GALNS causing Morquio A syndrome are both extremely heterogeneous and feature a high proportion of rare alleles; consequently, the discovery of previously unpublished GALNS alterations from patients with Morquio A is a relatively common occurrence. From previously published data, we find 277 unique GALNS alterations associated with Morquio A. This up‐to‐date summary of known GALNS alterations and accompanying locus‐specific database will be a resource for the Morquio A community.