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Identification of ABCC6 gene mutations in the Japanese patients with pseudoxanthoma elasticum (PXE)

โœ Scribed by Iwanaga, Akira; Yozaki, Mariko; Yagi, Yosuke; Maemura, Koji; Tsuiki, Eiko; Kitaoka, Takashi; Tanioka, Miki; Tamura, Hiroshi; Yamamoto, Yosuke; Hattori, Tomoyasu; Isogai, Zenzo; Ogi, Tomoo; Yoshiura, Koichiro; Utani, Atsushi


Book ID
123348103
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
77 KB
Volume
69
Category
Article
ISSN
0923-1811

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Mutational analysis of the ABCC6 gene an
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