Výsledky vyhledávání - "Sarah A. Neldner"

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

Autor: Robert I. Richards, Kenneth H. Neldner, Berthold Struk, Ulf-Peter Guenther, Sarah A. Neldner, David F. Callen, Daniel Hohl, Hans Knoblauch, Klaus Lindpaintner, Raj Ramesar, Amanda L. Lumsden, Stéphanie Zäch, Li Cai

Publikováno v: Journal of Molecular Medicine. 79:536-546

Pseudoxanthoma elasticum (PXE) is an inherited disorder of the elastic tissue with characteristic progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Recently mutations in the ABCC6 gene, encoding a transmembrane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832e56ab6599bc3b20175827db9b8adb
https://doi.org/10.1007/s001090100275

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