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

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...

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Bibliographic Details
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
Series:Journal of Genetic Engineering and Biotechnology
Subjects:
Mucolipidosis
GNPTAB gene
NGS
ML II
Egyptian
Mutations
Online Access:https://doi.org/10.1186/s43141-021-00204-4

Internet

https://doi.org/10.1186/s43141-021-00204-4

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