- Molecular order in mucolipidosis II and III nomenclatureSara S Cathey
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
Am J Med Genet A 146:512-3. 2008
- Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probandsS S Cathey
Greenwood Genetic Center, Charleston Office, Montague Oaks Office Park, N Charleston, SC 29418, USA
J Med Genet 47:38-48. 2010..The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase...