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Valentijn(L J),Ouvrier(R A),van den Bosch(... Hum Mutat 1995-05-30

We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine-Sottas neuropa...

Uyemura(K),Takeda(Y),Asou(H),Hayasaka(K) J Biochem 1995-05-11

...PMP22 and connexin 32 were also reported as target proteins of similar hereditary neuropathies. L1 is a large multifunct...

Zoidl(G),Blass-Kampmann(S),D'Urso(D),Schma... EMBO J 1995-05-22

...PMP22 mRNA and protein, whereas in cells infected with an antisense PMP22 expression vector PMP22 mRNA levels were reduc...

Uyemura(K),Asou(H),Takeda(Y) Prog Brain Res 1995-11-09

...PMP22 was reported to show high sequence homology, not only to PASII, but also to the growth arrest specific protein. Hu...

Snipes(G J),Suter(U) J Anat 1995-10-23

...PMP22), myelin basic proteins (MBPs), myelin-associated glycoprotein (MAG) and the recently described connexin 32 (Cx32)...

Bryant(D D),Wilson(G N) Biochem Mol Med 1995-11-03

...PMP22 sequences were only detected in rodents. Amino acid substitutions are clustered in both PMP22 and PMP70 genes, and...

Latour(P),Blanquet(F),Nelis(E),Bonnebouche... Hum Mutat 1995-11-21

...PMP22) located in the duplicated region of CMT 1a, and in the peripheral myelin protein zero (PO) located on chromosome ...

Blair(I P),Kennerson(M L),Nicholson(G A) Clin Chem 1995-09-07

...PMP22, which encodes a peripheral myelin protein. PMP22 is the crucial gene involved in the pathogenesis of CMT1A. Molec...

Bosse(F),Zoidl(G),Wilms(S),Gillen(C P),Kuh... J Neurosci Res 1994-08-04

Two peripheral myelin protein PMP22 transcripts, CD25 and SR13, have been identified by Northern blot and RNA-polymerase...

Chance(P F),Lupski(J R) Baillieres Clin Neurol 1994-12-28

...PMP22) gene. CMT1B is associated with point mutations in the myelin protein zero (P0) gene. The molecular defect in CMT1...