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Ohnishi(A) Rinsho Shinkeigaku 1996-12-04

...PMP22 gene region was duplicated in 18 (69%). A proband of HNPP, whose PMP22 gene region was deleted, was described. A p...

Taylor(V),Suter(U) Gene 1996-12-16

...PMP22) is expressed by Schwann cells in the peripheral nervous system (PNS), and mutations affecting the PMP22 gene are ...

Sereda(M),Griffiths(I),Pühlhofer(A),Stewar... Neuron 1996-07-02

...PMP22, gas-3). PMP22-transgenic rats develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hyp...

Nicholson(G),Corbett(A) J Neurol Neurosurg Psychiat... 1996-08-09

...PMP22 gene. This gene is expressed in peripheral nerve but not in the CNS. The second most common form is CMTX, caused b...

Vandenberghe(A),Latour(P),Chauplannaz(G),C... Clin Chem 1996-08-13

...PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-over involving repeated sequ...

Murakami(T),Lupski(J R) Genomics 1996-12-13

...PMP22, which maps within the critical region. To identify additional genes and characterize chromosomal elements, a 1.5-...

Inoue(K),Osaka(H),Sugiyama(N),Kawanishi(C)... Am J Hum Genet 1996-08-01

...PMP22, is duplicated in the majority of patients with Charcot-Marie-Tooth 1A, PLP gene overdosage may be a important gen...

Vallat(J M),Sindou(P),Preux(P M),Tabaraud(... Ann Neurol 1996-07-24

Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A delet...

Gabreëls-Festen(A A),Bolhuis(P A),Hoogendi... Acta Neuropathol 1996-06-05

...PMP22, or from point mutations in this gene. In general, it is not possible to distinguish, by clinical and neurophysiol...

Taylor(V),Welcher(A A),Program(A E),Suter(... J Biol Chem 1996-01-18

...PMP22. EMP-1 and PMP22 are co-expressed in most tissues but with differences in relative expression levels. EMP-1 is mos...