Molecular study of GNPTAB and GNPTG Genes in Mucolipidosis patients
Molecular, ML II/III , Mucolipidosis, GNPTAB, GNPTG
The aim of this study was to identify the molecular pattern of Mucolipidoses types II/ III among the clinically suspected patients in order to: - Confirm the diagnosis by molecular analysis. - Identify the mutational pattern among the study group. - Establishment of ML II/III diagnostic scheme including clinical evaluation, electron microscopic study of gingival biopsy, biochemical and molecular studies for accurate diagnosis and counselling.