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Infrequent but high-level amplification of 17p11.2 approximately p12 in human...

van Dartel(Maaike),Leenstra(Sieger),Troost... Cancer Genet Cytogenet 2003-04-17

...PMP22 and D17S1843 in 17p11.2. From the high-level amplifications we conclude that at least one, but possibly more, puta...

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11...

Thiel(Christian T),Kraus(Cornelia),Rauch(A... Eur J Hum Genet 2003-09-16

A 1.4-Mb tandem duplication, including the gene for peripheral myelin protein 22 (PMP22) in chromosome 17p11.2-12 is res...

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutatio...

Hattori(Naoki),Yamamoto(Masahiko),Yoshihar... Brain 2003-03-20

...PMP22 duplication, MPZ mutations or Cx32 mutations. PMP22 duplication caused mainly demyelinating phenotypes with slowed...

Towards crystallization of hydrophobic myelin glycoproteins: P0 and PASII/PMP22.

Sedzik(Jan),Uyemura(Keiichi),Tsukihara(Tom... Protein Expr Purif 2003-07-03

...PMP22, and finally, we have exchanged the sodium dodecyl sulfate bound to protein for other neutral detergents using cer...

Close relationship between motor impairments and loss of functional motoneuro...

Norreel(J C),Vinay(L),Fontes(M),Clarac(F) Neuroscience 2003-05-07

...PMP22 gene is responsible for dysmyelination-demyelination processes leading to motor and sensory impairments. Murine mo...

Deafness and CMT disease associated with a novel four amino acid deletion in ...

Sambuughin(Nyamkhishig),de Bantel(Astrid),... Neurology 2003-02-27

...PMP22 gene was identified. The data and review of literature suggest that in the PMP22 gene, some point mutations and sm...

Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway...

Chies(Romina),Nobbio(Lucilla),Edomi(Paolo)... J Cell Sci 2003-09-26

...PMP22) is a component of the compact peripheral nerve myelin, and mutations affecting gas3/PMP22 gene are responsible fo...

Mutation analysis of the MPZ and PMP22 genes in Croatian patients.

Grsković(Branka),Ferencak(Goran),Rukavina(... Clin Chem Lab Med 2003-04-09

We used single-strand conformation polymorphism analysis for mutational screening in two candidate genes, MPZ and PMP22,...

Inflammatory demyelination in a patient with CMT1A.

Vital(Anne),Vital(Claude),Lagueny(Alain),F... Muscle Nerve 2003-09-26

...PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the cou...

Molecular mechanisms, diagnosis, and rational approaches to management of and...

Saifi(Gulam Mustafa),Szigeti(Kinga),Snipes... J Investig Med 2003-11-18

...PMP22 gene product, the disease-associated gene in the duplication cases, could thus be avoided. We also discuss alterna...

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