Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran

Abstract Background Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well as N‐glycosylation pathways. CDG patien...

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Main Authors: Atefe Papi, Mina Zamani, Gholamreza Shariati, Alireza Sedaghat, Tahere Seifi, Samira Negahdari, Sahar Sadat Sedighzadeh, Jawaher Zeighami, Alihossein Saberi, Mohammad Hamid, Hamid Galehdari
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CDG
GSD
Iran
Pathogenic genetic variants
WES
Online Access:https://doi.org/10.1002/mgg3.2099

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