Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex-Reference-Cited by-同舟云学术

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

Published:2006-04-24 Issue:1 Volume:155 Page:201-203
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Han S.,Cooper D.N.,Bowden P.E.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2006.07269.x/fullpdf

Reference7 articles.

1. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations;Schuilenga-Hut;Hum Mutat,2003

2. Analysis of canonical and non-canonical splice sites in mammalian genomes;Burset;Nucleic Acids Res,2000

3. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4;Shaw;Clin Genet,2003

4. [Double heterozygous mutations of non-canonical splice (IVS1a + 5 g > a) and His348Gln caused inherited coagulation factor VII deficiency];Ding;Zhonghua Xue Ye Xue Za Zhi,2004

5. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression;Shapiro;Nucleic Acids Res,1987

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1. Keratins and Their Role in EB Simplex;Blistering Diseases;2015

2. Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site inKRT9;Clinical and Experimental Dermatology;2013-02-09

3. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients;British Journal of Dermatology;2011-02

4. Epidermolysis Bullosa in Calves in the United Kingdom;Journal of Comparative Pathology;2010-05

5. Epidermolysis Bullosa Simplex;Dermatologic Clinics;2010-01