...PMP22, predicted to determine a valine for glycine substitution at codon 107, which could be plotted in the center of th...
...PMP22, epithelial membrane protein EMP-1 and squamous cell differentiation marker CL-20.
...PMP22. Like PMP22, CL-20 is likely to play important roles in the regulation of cell proliferation, differentiation, and...
...PMP22 in HNPP families lacking a deletion. We have investigated point and small mutations in the MPZ, PMP22 and Cx32 gen...
...PMP22) and connexin32 (C x 32) are culprit genes in the most frequent forms of hereditary peripheral neuropathies. Myeli...
...PMP22). We describe the likely pathogenic cellular mechanism underlying the observed myelin deficiency. In Tr/+ animals,...
...PMP22 or MPZ. Most cases of DSS are caused by a single heterozygous dominant point mutation. We identified three de novo...
...pmp22. hnmp-1 was cloned from an elutriated human monocyte library and is expressed in various human hematopoietic and l...
...PMP22, resulting in overexpression of PMP22 in young patients. Although genetically well defined, the pathogenesis of th...
...PMP22 in Schwann cells is rapidly degraded in the endoplasmic reticulum. Only a small proportion of the total PMP22 acqu...
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