...PMP22 gene duplication and facioscapulohumeral muscular dystrophy (FSHD) due to a partial deletion of the D4Z4 locus (19...
...PMP22 duplication, MPZ, EGR2, LITAF, NEFL, PMP22, GJB1, axonal: MFN2, MPZ, NEFL, and GJB1.,Diagnostic testing of index p...
...PMP22 gene analysis showed a typical deletion, confirming the diagnosis of hereditary neuropathy with liability to press...
...PMP22, an abnormality that becomes more prevalent with age. Along with the ongoing accrual of misfolded PMP22, the activ...
...PMP22 deletion associated with HNPP interrupts myelin or nodal reconstitution. We describe two patients with genetically...
...Pmp22, which were expressed at lower levels and Cldn2 that was expressed at a higher level. Protein levels of claudin-2 ...
...PMP22, and CDKN1A--that together accurately predicted outcome of low Gleason score tumors. Validation of this three-gene...
...PMP22 duplication, Cx32 and MFN2 mutations. We found four different missense mutations: c.194C>T, c.242A>T, c.371C>T, an...
...PMP22) deletion and the other case showed a previously reported single base pair deletion at Leu145 causing a frameshift...
...PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for ...
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