✦ LIBER ✦

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17P trisomy-translocation to the X chromosome

✍ Scribed by PH King; R. Waldrop; JR Lupski; LG Shaffer

Book ID: 110887835
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 716 KB
Volume: 54
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1998.tb03755.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Localization of PMP-22 gene (candidate g

Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1a) to band 17p11.2 by direct r-banding fluoreschenceIn situhybridization

✍ Ei-ichi Takahashi; Osamu Takeda; Masato Himoro; Kenji Nanao; Goro Takada; Kiyosh 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 550 KB