Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 36, Issue 4, Pages 463-473
Publisher
Wiley
Online
2015-02-13
DOI
10.1002/humu.22764
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review
- (2013) Andrea L Vincent CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
- Individual Phenotypic Variances in a Family With Thiel–Behnke Corneal Dystrophy
- (2013) Walter Lisch et al. CORNEA
- Absolute quantification by droplet digital PCR versus analog real-time PCR
- (2013) Christopher M Hindson et al. NATURE METHODS
- Franceschetti Hereditary Recurrent Corneal Erosion
- (2012) Walter Lisch et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Individual Phenotypic Variances in a Family With Thiel–Behnke Corneal Dystrophy
- (2012) Hisashi Nakamura et al. CORNEA
- Immunolocalization of Different Collagens in the Cornea of Human Fetal Eyes: A Developmental Approach
- (2012) Martina C. Herwig et al. CURRENT EYE RESEARCH
- High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number
- (2011) Benjamin J. Hindson et al. ANALYTICAL CHEMISTRY
- dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
- (2011) Xiaoming Liu et al. HUMAN MUTATION
- Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
- (2011) D. Kiritsi et al. JOURNAL OF MEDICAL GENETICS
- Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions
- (2009) Björn Hammar et al. ACTA OPHTHALMOLOGICA
- Non-Herlitz Junctional Epidermolysis Bullosa
- (2009) Kim B. Yancey et al. DERMATOLOGIC CLINICS
- Collagen XVII
- (2009) Cristina Has et al. DERMATOLOGIC CLINICS
- Glycine Substitution Mutations Cause Intracellular Accumulation of Collagen XVII and Affect Its Post-Translational Modifications
- (2009) Laura Huilaja et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Corneal dystrophies
- (2009) Gordon K Klintworth Orphanet Journal of Rare Diseases
- A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance
- (2008) Björn Hammar et al. ACTA OPHTHALMOLOGICA
- Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis
- (2008) Björn Hammar et al. ACTA OPHTHALMOLOGICA
- The IC3D Classification of the Corneal Dystrophies
- (2008) CORNEA
- Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance
- (2008) Linda Köhn et al. EUROPEAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started