Mutations in POGLUT 1 in Galli–Galli/Dowling–Degos disease-Reference-Cited by-同舟云学术

Mutations in POGLUT 1 in Galli–Galli/Dowling–Degos disease

Published:2016-09-24 Issue:1 Volume:176 Page:270-274
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Wilson N.J.¹,Cole C.¹²,Kroboth K.¹,Hunter W.N.³,Mann J.A.⁴⁵,McLean W.H.I.¹,Kernland Lang K.⁶,Beltraminelli H.⁶,Sabroe R.A.⁷,Tiffin N.⁸,Sobey G.J.⁹,Borradori L.⁶,Simpson E.⁴,Smith F.J.D.¹¹⁰

Affiliation:

1. Dermatology and Genetic Medicine Division of Biological Chemistry and Drug Discovery School of Life Sciences University of Dundee Dundee U.K.

2. Division of Computational Biology School of Life Sciences University of Dundee Dundee U.K.

3. Division of Biological Chemistry and Drug Discovery School of Life Sciences University of Dundee Dundee U.K.

4. Department of Dermatology Oregon Health & Sciences University Portland OR U.S.A.

5. Division of Dermatology Dartmouth‐Hitchcock Medical Center Lebanon NH U.S.A.

6. Department of Dermatology University Hospital‐Inselspital Bern University of Bern Bern Switzerland

7. Department of Dermatology Royal Hallamshire Hospital Sheffield U.K.

8. Department of Histopathology Royal Hallamshire Hospital Sheffield U.K.

9. Department of Clinical Genetics Sheffield Children's Hospital Sheffield U.K.

10. Pachyonychia Congenita Project Salt Lake City UT U.S.A.

Funder

Wellcome Trust

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.14914

Reference10 articles.

1. The spectrum of reticulate pigment disorders of the skin revisited;Muller CS;Eur J Dermatol,2012

2. Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease

3. Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: Additional genetic evidence in a German family

4. Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

5. Heterozygous frameshift mutation in keratin 5 in a family with G alli– G alli disease

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