𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa

✍ Scribed by Yoshida, S; Honda, M; Yoshida, A; Nakao, S; Goto, Y; Nakamura, T; Fujisawa, K; Ishibashi, T

Book ID
110035539
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
103 KB
Volume
19
Category
Article
ISSN
0950-222X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mutational analysis of the ABCC6 gene an
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)
✍ Veronika Schulz; Doris Hendig; Maja Henjakovic; Christiane Szliska; Knut Kleesie πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 424 KB

Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by calcification of elastic fibers in dermal, ocular, and cardiovascular tissues. Recently, ABCC6 mutations were identified as causing PXE. In this follow-up study we report the investigation of 61German PXE patients from 53 families

Pseudoxanthoma elasticum: Point mutation
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
✍ Ilaria Meloni; Pietro Rubegni; Giovambattista De Aloe; Mirella Bruttini; Elisa P πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 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