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

Cai Li, Amanda Lumsden, Ulf Guenther, Sarah Neldner, Stephanie Zach, Hans Knoblauch, Rajkumar Ramesar, Daniel Hohl, David Callen, Kenneth Neldner, Klaus Lindpaintner, Robert Richards, Berthold Struck

    Research output: Contribution to journalArticle

    41 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)536-546
    Number of pages11
    JournalJOURNAL OF MOLECULAR MEDICINE-JMM
    Volume79
    Issue number9
    Publication statusPublished - 2001

    Cite this

    Li, C., Lumsden, A., Guenther, U., Neldner, S., Zach, S., Knoblauch, H., Ramesar, R., Hohl, D., Callen, D., Neldner, K., Lindpaintner, K., Richards, R., & Struck, B. (2001). A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. JOURNAL OF MOLECULAR MEDICINE-JMM, 79(9), 536-546.