𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

✍ Scribed by Olivier Le Saux; Konstanze Beck; Christine Sachsinger; Chiara Silvestri; Carina Treiber; Harald H.H. Göring; Eric W. Johnson; Anne De Paepe; F. Michael Pope; Ivonne Pasquali-Ronchetti; Lionel Bercovitch; Sharon Terry; Charles D. Boyd


Book ID
117853713
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
748 KB
Volume
69
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Molecular genetics of pseudoxanthoma ela
✍ Sara Miksch; Amanda Lumsden; Ulf P. Guenther; Dorothee Foernzler; Stéphanie Chri 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 780 KB

Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a muta

Pseudoxanthoma elasticum: Point mutation
✍ Ilaria Meloni; Pietro Rubegni; Giovambattista De Aloe; Mirella Bruttini; Elisa P 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or