
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
The Journal of dermatology 2017 Feb .
Iwanaga Akira, Okubo Yumi, Yozaki Mariko, Koike Yuta, Kuwatsuka Yutaka, Tomimura Saori, Yamamoto Yosuke, Tamura Hiroshi, Ikeda Satoshi, Maemura Koji, Tsuiki Eiko, Kitaoka Takashi, Endo Yuichiro, Mishima Hiroyuki, Yoshiura Koh-Ichiro, Ogi Tomoo, Tanizaki Hideaki, Wataya-Kaneda Mari, Hattori Tomoyasu, Utani Atsus - Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum.
PloS one 2016 11 (9): e0162337.
Pingel Simon, Passon Sebastian Gorgonius, Pausewang Kristin Solveig, Blatzheim Anna Katharina, Pizarro Carmen, Tuleta Izabela, Gliem Martin, Charbel Issa Peter, Schahab Nadjib, Nickenig Georg, Skowasch Dirk, Schaefer Christian Alexand - Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.
Molecular genetics & genomic medicine 2015 May 3 (3): 233-7.
Kringen Marianne K, Stormo Camilla, Berg Jens Petter, Terry Sharon F, Vocke Christine M, Rizvi Samar, Hendig Doris, Piehler Armin - Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
The Journal of investigative dermatology 2015 May 135 (5): 1294-302.
Jin Liang, Jiang Qiujie, Wu Zhengsheng, Shao Changxia, Zhou Yong, Yang Luting, Uitto Jouni, Wang Ga - Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
The Journal of investigative dermatology 2015 Apr 135 (4): 992-8.
Hosen Mohammad J, Van Nieuwerburgh Filip, Steyaert Wouter, Deforce Dieter, Martin Ludovic, Leftheriotis Georges, De Paepe Anne, Coucke Paul J, Vanakker Olivier
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