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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-...

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...

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...

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...

Roa(B B),Greenberg(F),Gunaratne(P),Sauer(C... Hum Genet 1996-07-26

...PMP22 gene duplications, thus providing further support for the PMP22 gene dosage mechanism for CMT1A.

Navon(R),Seifried(B),Gal-On(N S),Sadeh(M) Hum Genet 1996-07-26

...PMP22. The new mutation also augments previous observations that diseases caused by mutations in PMP22 are more severe t...

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 ...

Ouvrier(R) J Child Neurol 1996-12-17

...PMP22. The finding that mutations of the myelin protein PMP22 gene were present in some Charcot-Marie-Tooth disease case...

Palau(F),Sevilla(T) Neurologia 1996-12-05

...PMP22 gene and in P0 and Cx32. Déjerine-Sortas syndrome (DSS) is caused by point mutations in PMP22 and P0 genes, wherea...