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Article

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

American journal of medical genetics. Part A - 1 Dec 2021

Marek-Yagel Dina, Eliyahu Aviva, Veber Alvit, Shalva Nechama, Philosoph Amit Mary, Barel Ortal, Javasky Elisheva, Pode-Shakked Ben, Loewenthal Neta, Anikster Yair, Staretz-Chacham Orna

Abstract excerpt

Maroteaux-Lamy syndrome (MPS-VI) is a rare autosomal-recessive disorder with a wide spectrum of clinical manifestations, ranging from an attenuated to a rapidly progressive disease. It is caused by variants in ARSB, which encodes the lysosomal arylsulfatase B (ARSB) enzyme, part of the degradation process of glycosaminoglycans in lysosomes. Over 220 variants have been reported so far, with a majority of missense...

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PMID: 34435740
DOI: 10.1002/ajmg.a.62453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).PMID 34435740Read ↗

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