Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome-Reference-Cited by-同舟云学术

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome

Published:2018-07-28 Issue:8 Volume:176 Page:1778-1783
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Ankala Arunkanth¹²^ORCID,Jain Nieraj³,Hubbard Baker³,Alexander John J.¹²,Shankar Suma P.¹³⁴^ORCID

Affiliation:

1. Department of Human Genetics; Emory University School of Medicine; Atlanta Georgia

2. EGL Genetic Diagnostics, LLC; Atlanta Georgia

3. Department of Ophthalmology; Emory University; Atlanta Georgia

4. Division of Genomic Medicine, Department of Pediatrics; UC Davis School of Medicine; Sacramento California

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38855/fullpdf

Reference23 articles.

1. Identification of alternatively spliced variants of type II procollagen in vitreous;Bishop;Biochemical and Biophysical Research Communications,1994

2. A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features;Brezin;Molecular Vision,2011

3. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14;Brown;Archives of Ophthalmology,1995

4. Deletions overlapping VCAN Exon 8 are new molecular defects for Wagner disease;Burin-Des-Roziers;Human Mutation,2017

5. Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases;Chen;Investigative Opthalmology & Visual Science,2013

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