...PMP22), and early growth response 2 (EGR2). We present a patient with two compound mutations in PMP22: a point mutation ...
...PMP22 family of peroxisomal membrane proteins. An A. fumigatus ΔwscA mutant is unable to form Woronin bodies, and HexA, ...
...PMP22 duplication/deletion analysis to screen causative genes in 22 Chinese CMT families. The novel variants detected by...
...PMP22 gene. Reciprocal deletion of the same region is the main cause of hereditary neuropathy with liability to pressure...
...PMP22 duplications and 1 MPZ duplication. The 2 patients with PMP22 duplication presented with bulbar and respiratory in...
...PMP22 gene. The condition leads to mononeuropathy due to compression and easy strangulation during daily life activities...
...PMP22,MPZ,MFN2), and autonomous nervous system involvement in 18% (PMP22,MPZ, LITAF,MFN2). RLS and respiratory insuffici...
...Pmp22 overexpression mitigates several aspects of a CMT1A-related phenotype. Mechanistic studies of Pmp22 regulation ide...
...PMP22). In this review, we discuss the current knowledge of the interaction between FAK and tetraspan proteins in physio...
...PMP22 and EMP2 is discussed.
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