Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory-Reference-Cited by-同舟云学术

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

Published:2014-11-19 Issue:1 Volume:172 Page:94-100
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takeichi T.¹²,Liu L.³,Fong K.¹,Ozoemena L.³,McMillan J.R.³,Salam A.¹,Campbell P.¹⁴,Akiyama M.²,Mellerio J.E.¹⁵,McLean W.H.I.⁶,Simpson M.A.⁷,McGrath J.A.¹⁶

Affiliation:

1. St John's Institute of Dermatology; King's College London (Guy's Campus); London U.K

2. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan

3. Viapath; St Thomas' Hospital; London U.K

4. Hull York Medical School; York U.K

5. St John's Institute of Dermatology; Guy's and St Thomas' NHS Foundation Trust; London U.K

6. Dermatology and Genetic Medicine; University of Dundee; Dundee U.K

7. Department of Medical and Molecular Genetics; King's College London (Guy's Campus); London U.K

Funder

Wellcome Trust

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.13190/fullpdf

Reference25 articles.

1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

2. Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies;Salam;Ann Med,2014

3. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases;Hintner;J Invest Dermatol,1981

4. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa;Heagerty;Lancet,1986

5. Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa;Bruckner-Tuderman;J Invest Dermatol,1989

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