✦ LIBER ✦

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

✍ Scribed by M.C. Bolling; H.H. Lemmink; G.H.L. Jansen; M.F. Jonkman

Book ID: 108671556
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 229 KB
Volume: 164
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2010.10146.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel and known KRT5 a

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

✍ M.J. Arin; G. Grimberg; H. Schumann; H. De Almeida Jr; Y.-R. Chang; G. Tadini; J 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB

Novel and recurrent mutations in keratin

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly

✍ Felix B. Müller; Wolfgang Küster; Kerstin Wodecki; Hiram Almeida Jr.; Leena Bruc 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 1 views

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant genetic skin disorders caused by mutations of the keratin genes KRT5 and KRT14. It is characterised by lysis of basal keratinocytes leading to the development of intraepidermal blisters upon minor mechanical trauma. We investigated

Clinical heterogeneity in recessive epid

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14

✍ E. Yiasemides; N. Trisnowati; J. Su; N. Dang; S. Klingberg; P. Marr; W. Melbourn 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB

Two novel recessive mutations in KRT14 i

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex

✍ M. García; J.L. Santiago; A. Terrón; A. Hernández-Martín; A. Vicente; C. Fortuny 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 557 KB

Utilization of a cryptic noncanonical do

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

✍ S. Han; D.N. Cooper; P.E. Bowden 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

Epidermolysis bullosa simplex due to KRT

Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes

✍ J.C. Chamcheu; M. Virtanen; H. Navsaria; P.E. Bowden; A. Vahlquist; H. Törmä 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 540 KB