(Q47207538)

11 January 2018

title

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). (English)

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11 January 2018

epithelial recurrent erosion dystrophy

main subject

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author

Irina Golovleva

12

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11 January 2018

Alison Hardcastle

object named as

Alison J Hardcastle

11

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Ola Sandgren

9

object named as

Ola Sandgren

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11 January 2018

author name string

Frida Jonsson

1

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11 January 2018

Berit Byström

2

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11 January 2018

Alice E Davidson

3

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11 January 2018

Ludvig J Backman

4

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11 January 2018

Therese G Kellgren

5

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11 January 2018

Stephen J Tuft

6

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11 January 2018

Timo Koskela

7

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11 January 2018

Patrik Rydén

8

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11 January 2018

Patrik Danielson

10

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11 January 2018

publication date

1 April 2015

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11 January 2018

published in

Human Mutation

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11 January 2018

volume

36

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11 January 2018

issue

4

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11 January 2018

page(s)

463-473

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11 January 2018

Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?

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Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

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Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations

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Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry

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Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs

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Collagenous transmembrane proteins: collagen XVII as a prototype

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Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

21 January 2018

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Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions

21 January 2018

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21 January 2018

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Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

21 January 2018

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Immunolocalization of different collagens in the cornea of human fetal eyes: a developmental approach.

21 January 2018

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Absolute quantification by droplet digital PCR versus analog real-time PCR.

21 January 2018

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Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications

21 January 2018

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Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

21 January 2018

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Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

21 January 2018

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Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

21 January 2018

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Franceschetti hereditary recurrent corneal erosion

21 January 2018

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Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy

21 January 2018

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Pathogenesis, clinical features and management of recurrent corneal erosions

21 January 2018

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Improved splice site detection in Genie

21 January 2018

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Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25

21 January 2018

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Keratinocytes from patients lacking collagen XVII display a migratory phenotype

21 January 2018

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The corneal epithelial basement membrane: structure, function, and disease.

21 January 2018

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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

21 January 2018

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The IC3D classification of the corneal dystrophies

21 January 2018

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Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.

21 January 2018

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Non-herlitz junctional epidermolysis bullosa

21 January 2018

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A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

21 January 2018

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Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

21 January 2018

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A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13

21 January 2018

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7 January 2021

Laminins in normal, keratoconus, bullous keratopathy and scarred human corneas

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7 January 2021

Recessive dystrophic epidermolysis bullosa

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7 January 2021

Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes

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7 January 2021

A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22764

7 January 2021

Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22764

7 January 2021

Electron microscopic findings in corneal epithelial basement membrane degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22764

7 January 2021

Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22764

7 January 2021

Identifiers

DOI

10.1002/HUMU.22764

1 reference

11 January 2018

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11 January 2018