title: Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
authors.affiliation: Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.
authors.forename: Maria Francisca
authors.initials: MF
authors.lastname: Coutinho
authors.forename: Liliana da Silva
authors.initials: Lda S
authors.lastname: Santos
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
authors.forename: Kapaettu
authors.initials: K
authors.lastname: Satyamoorthy
authors.forename: Lúcia
authors.initials: L
authors.lastname: Lacerda
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Prata
authors.forename: Sandra
authors.initials: S
authors.lastname: Alves
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000235:genetics*; D020125:Mutation, Missense; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*
chemical_list: D017855:Transferases (Other Substituted Phosphate Groups); C511050:GNPTAB protein, human