✦ LIBER ✦

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

✍ Scribed by Zhenlin Zhang; Weibo Xia; Jinwei He; Zeng Zhang; Yaohua Ke; Hua Yue; Chun Wang; Hao Zhang; Jiemei Gu; Weiwei Hu; Wenzhen Fu; Yunqiu Hu; Miao Li; Yujuan Liu

Book ID: 113423144
Publisher: American Society of Human Genetics
Year: 2012
Tongue: English
Weight: 959 KB
Volume: 90
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.11.019

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exome sequencing identifies MLL2 mutatio

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

✍ Ng, Sarah B; Bigham, Abigail W; Buckingham, Kati J; Hannibal, Mark C; McMillin, 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 520 KB

Exome Sequencing Identifies FUS Mutation

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

✍ Nancy D. Merner; Simon L. Girard; Hélène Catoire; Cynthia V. Bourassa; Véronique 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 488 KB

Exome sequencing identifies NMNAT1 mutat

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

✍ Chiang, Pei-Wen; Wang, Juan; Chen, Yang; Fu, Quan; Zhong, Jing; Chen, Yanhua; Yi 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 217 KB

Exome Sequencing Identifies PDE4D Mutati

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

✍ Caroline Michot; Carine Le Goff; Alice Goldenberg; Avinash Abhyankar; Céline Kle 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 253 KB

Mutations in the prostaglandin transport

Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing

✍ Wenke Seifert; Jirko Kühnisch; Beyhan Tüysüz; Christof Specker; Ad Brouwers; Den 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB

Digital clubbing is usually secondary to different acquired diseases. Primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disorder with variable digital clubbing as the most prominent feature, subperiosteal new bone formation, and arthropathy. Recently, mutations in the 15-hydroxy-prost

Exome sequencing identifies ACAD9 mutati

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

✍ Haack, Tobias B; Danhauser, Katharina; Haberberger, Birgit; Hoser, Jonathan; Str 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 478 KB