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Co-existence of mutations in the FBN1 gene and the ABCC6 gene in a patient with Marfan syndrome associated with pseudoxanthoma elasticum

โœ Scribed by Hayashi, Shujiro; Utani, Atsushi; Iwanaga, Akira; Yagi, Yosuke; Morisaki, Hiroko; Morisaki, Takayuki; Hamasaki, Yoichiro; Hatamochi, Atsushi

Book ID
123418331
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
765 KB
Volume
72
Category
Article
ISSN
0923-1811

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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)
โœ Veronika Schulz; Doris Hendig; Maja Henjakovic; Christiane Szliska; Knut Kleesie ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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
โœ Ilaria Meloni; Pietro Rubegni; Giovambattista De Aloe; Mirella Bruttini; Elisa P ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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