Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.
Journal of pediatric endocrinology & metabolism : JPEM | 2016-10-01 | PMID 27710913
Coutinho Maria Francisca, Encarnação Marisa, Laranjeira Francisco and 3 more
Genes: GNPTAB
