Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families

Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families

Introduction: Mucopolysaccharidoses are a group of lysosomal storage disorders that include seven types that are classified based on the enzymes that are disrupted. Malfunction of these enzymes leads to the accumulation of glycosaminoglycans (GAGs) in various tissues. Due to genetic and clinical het...

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Main Authors: Rezvan Zabihi, Mina Zamani, Majid Aminzadeh, Niloofar Chamanrou, Fatemeh Zahra Kiani, Tahere Seifi, Jawaher Zeighami, Tahere Yadegari, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Gholamreza Shariati, Hamid Galehdari
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Genetics
Subjects:
mucopolysaccharidosis (MPS)
whole exome sequencing (WES)
pathogenic variant
Sanger sequencing
genetic diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1343094/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1343094/full

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