Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome ( MPS VI )-Reference-Cited by-同舟云学术

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

Published:2021-08-26 Issue:12 Volume:185 Page:3804-3809
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Marek‐Yagel Dina¹²,Eliyahu Aviva¹²³,Veber Alvit¹,Shalva Nechama¹,Philosoph Amit Mary¹,Barel Ortal⁴⁵,Javasky Elisheva⁴⁵,Pode‐Shakked Ben¹²^ORCID,Loewenthal Neta⁶,Anikster Yair¹²⁵,Staretz‐Chacham Orna⁷^ORCID

Affiliation:

1. Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel‐Hashomer Israel

2. The Danek Gertner Institute of Human Genetics Sheba Medical Center Tel‐Hashomer Israel

3. The Genomic Unit Sheba Cancer Research Center, Sheba Medical Center Tel‐Hashomer Israel

4. Sackler Faculty of Medicine Tel‐Aviv University Tel‐Aviv Israel

5. Wohl Institute of Translational Medicine Sheba Medical Center Tel‐Hashomer Israel

6. Pediatric Endocrinology Diabetes Unit, Soroka Medical Center, Faculty of Health Sciences Ben‐Gurion University Beer Sheva Israel

7. Metabolic Clinic, Pediatric Division, Soroka Medical Center Ben‐Gurion University Beer Sheva Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62453

Reference24 articles.

1. Cumulative incidence rates of the mucopolysaccharidoses in Germany

2. Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme]

3. A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

4. Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

5. A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

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2. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24

3. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease;International Journal of Molecular Sciences;2021-12-15