✦ LIBER ✦

Duplication of thePMP22gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

✍ Scribed by Roa, Benjamin B.; Greenberg, Frank; Gunaratne, Preethi; Sauer, Christine M.; Lubinsky, Mark S.; Kozma, Chahira; Meck, Jeanne M.; Magenis, R. Ellen; Shaffer, Lisa G.; Lupski, J. R.

Book ID: 118785844
Publisher: Springer
Year: 1996
Tongue: English
Weight: 394 KB
Volume: 97
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050109

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Patients homozygous for the 17p 11.2 dup

Patients homozygous for the 17p 11.2 duplication in charcot-marie-tooth type 1A Disease

✍ Dr E. LeGuern; R. Gouider; D. Mabin; S. Tardieu Bs; N. Birouk; P. Parent; P. Bou 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 540 KB

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

Duplication in chromosome 17p11.2 in Cha

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

✍ Raeymaekers, P; Timmerman, V; Nelis, E; De Jonghe, P; Hoogenduk, J.E; Baas, F; B 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 361 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 phenotype produced b

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

✍ PH King; R. Waldrop; JR Lupski; LG Shaffer 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 716 KB

Peripheral myelin protein–22 gene maps i

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

✍ Matsunami, Norisada; Smith, Brooke; Ballard, Linda; William Lensch, M.; Robertso 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 470 KB