A novel splicing variant in <i>GALNS</i> in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences-Reference-Cited by-同舟云学术

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A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences

Published:2022-08-24 Issue:6 Volume:86 Page:361-368
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Kim Sang‐Mi¹,Noh Eu Seon²,Park Jong‐Ho³⁴,Park Hyung‐Doo¹,Lee Soo‐Youn¹,Jang Ja‐Hyun¹,Cho Sung Yoon²^ORCID

Affiliation:

1. Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea

2. Department of Pediatrics, Department of Medicine, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea

3. Department of Health Sciences and Technology, SAIHST Sungkyunkwan University Seoul Korea

4. Clinical Genomics Center Samsung Medical Center Seoul Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12483

Reference30 articles.

1. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

2. Long‐term outcomes of early enzyme replacement therapy for Mucopolysaccharidosis IV: Clinical case studies of two siblings;Barak S.;Diagnostics (Basel),2020

3. Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics

4. Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

5. Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

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