Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Abstract Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal deformities and developmental delay. Homozy...

Full description

Bibliographic Details

Published in:	Journal of Genetic Engineering and Biotechnology
Main Authors:	Mona L. Essawi, Ekram M. Fateen, Hanan A. Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona M. Ibrahim, Heba A. Hassan, Samia A. Temtamy
Format:	Article
Language:	English
Published:	Elsevier 2021-08-01
Subjects:	Mucolipidosis GNPTAB gene NGS ML II Egyptian Mutations
Online Access:	https://doi.org/10.1186/s43141-021-00204-4