(Q44619843)

4 December 2017

title

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

1 reference

DOI

https://api.crossref.org/works/10.1076/CEYR.27.4.223.16595

Thiel-Behnke corneal dystrophy

21 March 2024

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

cytoskeletal proteins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

nerve tissue protein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

1 reference

https://api.crossref.org/works/10.1076/CEYR.27.4.223.16595

21 March 2024

5

Stephen P Daiger

1 reference

4 December 2017

Xinping Zhao

2

1 reference

4 December 2017

Xiangyang Xu

4

1 reference

4 December 2017

Lori S. Sullivan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

Sara J. Bowne

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

Steven B. Yee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

Richard W. Yee

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562173

21 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14562173

21 March 2024

publication date

1 October 2003

1 reference

full work available at URL

4 December 2017

http://www.tandfonline.com/doi/pdf/10.1076/ceyr.27.4.223.16595

1 reference

DOI

https://api.crossref.org/works/10.1076/CEYR.27.4.223.16595

21 March 2024

1 reference

4 December 2017

volume

27

1 reference

4 December 2017

issue

4

1 reference

4 December 2017

page(s)

223-226

1 reference

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

4 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

Advances in the molecular genetics of corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

Reevaluation of Corneal Dystrophies of Bowman??s Layer and the Anterior Stroma (Reis-B??cklers and Thiel-Behnke Types): A Light and Electron Microscopic Study of Eight Corneas and a Review of the Literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FCEYR.27.4.223.16595

21 January 2018

Identifiers

DOI

1 reference

4 December 2017

1 reference