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

Journal article

Open access

Peer reviewed

Mona L. Essawi, Ekram M. Fateen, Hanan A. Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona M. Ibrahim, Heba A. Hassan and Samia A. Temtamy

Journal of Genetic Engineering and Biotechnology, Vol.19(1), pp.111-111

03/08/2021

PMID: 34342781

Abstract

Egyptian

GNPTAB gene

ML II

Mucolipidosis

Mutations

NGS

url

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

Published (Version of record) Open

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Title: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
Creators - without role: Mona L. Essawi - National Research Centre
Ekram M. Fateen - National Research Centre
Hanan A. Atia - Al Azhar University
Noura R. Eissa - National Research Centre
Eman H. Aboul-Ezz - National Research Centre
Mona M. Ibrahim - Cairo, Egypt Division of Human Genetics and Genome Research, Department of Biochemical Genetics, Dokki, Cairo, 12311 Egypt
Heba A. Hassan - National Research Centre
Samia A. Temtamy - National Research Centre
Publication Details: Journal of Genetic Engineering and Biotechnology, Vol.19(1), pp.111-111
Publisher: Springer Berlin Heidelberg
Grant note: 5253 / ;
Identifiers: 9932128608331
Academic Unit: University Ha'il
Language: English
Resource Type: Journal article