We have studied a consanguineous family containing two children with severe, generalized epidermolysis bullosa simplex (EBS). Electron microscopy of skin biopsies from the affected individuals showed that basal keratinocytes were devoid of tonofilament bundles, although some single intermediate fila
✦ LIBER ✦
A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
✍ Scribed by K. Batta; E.L. Rugg; N.J. Wilson; N. West; H. Goodyear; E.B. Lane; M. Gratian; P. Dopping-Hepenstal; C. Moss; R.A.J. Eady
- Book ID
- 108667288
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 936 KB
- Volume
- 143
- Category
- Article
- ISSN
- 0007-0963
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Homozygous nonsense mutation in helix 2
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
✍
Laura D. Corden; Jemima E. Mellerio; Matthew J. Gratian; Robin A. J. Eady; John
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 304 KB
A novel homozygous keratin 14 mutation i
✍
J.O. Baek; H.Y. Lee; S.W. Oh; J.S. Lee; S.C. Kim; J.R. Lee; J.Y. Roh
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 266 KB
Novel and recurrent mutations in keratin
✍
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
Two novel recessive mutations in KRT14 i
✍
M. García; J.L. Santiago; A. Terrón; A. Hernández-Martín; A. Vicente; C. Fortuny
📂
Article
📅
2011
🏛
John Wiley and Sons
🌐
English
⚖ 557 KB
A mutation (met→arg) in the type I kerat
✍
Marian M. Humphries; Denise M. Sheils; Gwyneth J. Farrar; Rajendra Kumar-Singh;
📂
Article
📅
1993
🏛
John Wiley and Sons
🌐
English
⚖ 564 KB