✦ LIBER ✦

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

✍ Scribed by van Ruissen, Fred; de Wissel, Marit; Bordewijk, Lou; Samijn, Johnny PA; van der Pol, W Ludo; Meggouh, Farid; Baas, Frank; Weterman, Marian AJ

Book ID: 109849051
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 460 KB
Volume: 18
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2009.186

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Charcot-Marie-Tooth caused by a copy num

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero

✍ Helle Høyer; Geir J. Braathen; Anette K. Eek; Camilla F. Skjelbred; Michael B. R 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 357 KB

Copy number variations are a rare cause

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

✍ Jia Huang; Xingyao Wu; Gladys Montenegro; Justin Price; Gaofeng Wang; Jeffery M. 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 512 KB

Novel mutations in the Charcot-Marie-Too

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

✍ Kathrin Huehne; Vladimir Benes; Christian Thiel; Cornelia Kraus; Wolfram Kress; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variatio

Evidence for a recessive PMP22 point mut

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

✍ Roa, Benjamin B.; Garcia, Carlos A.; Pentao, Liu; Killian, James M.; Trask, Barb 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 825 KB

Compound heterozygous deletions of PMP22

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

✍ Khalid Al-Thihli; Teresa Rudkin; Nancy Carson; Chantal Poulin; Serge Melançon; V 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB

Identical point mutations of PMP–22 in T

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

✍ Valentijn, Linda J.; Baas, Frank; Wolterman, Ruud A.; Hoogendijk, Jessica E.; va 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 423 KB