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

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 journal › Article › peer-review

45 Citations (Scopus)

Original language	English
Pages (from-to)	536-546
Number of pages	11
Journal	Journal of Molecular Medicine
Volume	79
Issue number	9
Publication status	Published - 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, 79(9), 536-546.

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

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

year = "2001",

language = "English",

volume = "79",

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journal = "Journal of Molecular Medicine",

issn = "0946-2716",

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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, vol. 79, no. 9, pp. 536-546.

TY - JOUR

T1 - A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

AU - Li, Cai

AU - Lumsden, Amanda

AU - Guenther, Ulf

AU - Neldner, Sarah

AU - Zach, Stephanie

AU - Knoblauch, Hans

AU - Ramesar, Rajkumar

AU - Hohl, Daniel

AU - Callen, David

AU - Neldner, Kenneth

AU - Lindpaintner, Klaus

AU - Richards, Robert

AU - Struck, Berthold

PY - 2001

Y1 - 2001

M3 - Article

SN - 0946-2716

VL - 79

SP - 536

EP - 546

JO - Journal of Molecular Medicine

JF - Journal of Molecular Medicine

IS - 9

ER -