✦ LIBER ✦

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

✍ Scribed by Roa, Benjamin B.; Garcia, Carlos A.; Pentao, Liu; Killian, James M.; Trask, Barbara J.; Suter, Ueli; Snipes, G. Jackson; Ortiz-Lopez, Rocio; Shooter, Eric M.; Patel, Pragna I.

Book ID: 109918224
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 825 KB
Volume: 5
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1093-189

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

NEFLPro22Arg mutation in Charcot-Marie-T

NEFLPro22Arg mutation in Charcot-Marie-Tooth disease type 1

✍ Ji Soo Shin; Ki Wha Chung; Sun Young Cho; Jiyoung Yun; Su Jin Hwang; Sung Hee Ka 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 271 KB

Charcot-Marie-Tooth disease type 1A: mor

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

✍ A. A. W. M. Gabreëls-Festen; P. A. Bolhuis; J. E. Hoogendijk; L. J. Valentijn; E 📂 Article 📅 1995 🏛 Springer-Verlag 🌐 English ⚖ 949 KB

Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protei

Charcot-Marie-tooth disease type 1A Asso

Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in thePMP22gene

✍ Benjamin B. Roa; Carlos A. Garcia; Uelli Suter; Deanna A. Kulpa; Carol A. Wise; 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 93 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

The gene for the peripheral myelin prote

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

✍ Patel, Pragna I.; Roa, Benjamin B.; Welcher, Andrew A.; Schoener-Scott, Raymond; 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 834 KB