✦ LIBER ✦

Recessive PMP22 mutations: Quantitative and qualitative aspects

✍ Scribed by Alf Beckmann; J. Michael Schröder

Book ID: 101389177
Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 176 KB
Volume: 48
Category: Article
ISSN: 0364-5134
DOI: 10.1002/1531-8249(200007)48:1<131::aid-ana29>3.0.co;2-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

PMP22 Thr(118)Met: recessive CMT1 mutati

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

✍ Nelis, Eva; Holmberg, Bengt; Adolfsson, Rolf; Holmgren, Gösta; Broeckhoven, Chri 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 350 KB

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

Qualitative and Quantitative Aspects of

Qualitative and Quantitative Aspects of Immunoassays

✍ A. J. PESCE; D. J. FORD; M. A. GAIZUTIS 📂 Article 📅 1978 🏛 John Wiley and Sons 🌐 English ⚖ 386 KB

Chemical assesment of lignin biodegradat

Chemical assesment of lignin biodegradation some qualitative and quantitative aspects

✍ Bernard Monties 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 504 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

Identification and in silico analysis of

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

✍ Miltenberger-Miltenyi, Gabriel; Schwarzbraun, Thomas; Löscher, Wolfgang N; Wansc 📂 Article 📅 2009 🏛 Nature Publishing Group 🌐 English ⚖ 373 KB