...PMP22, we engineered a novel knock-out (-/-) mouse line by replacing the first two coding exons of pmp22 with the lacZ r...
...PMP22 retains some normal PMP22 activity, allowing the formation of compact myelin and normal nerve conduction velocitie...
A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17...
...PMP22/EMP/MP20/claudin, or pfam00822, superfamily.
...PMP22), respectively. We developed a rapid and reliable detection system for duplications/deletions of the PMP22 gene ba...
...PMP22) gene in most families.,Two girls, aged 10 and 12 years, presented with peroneal nerve palsy and peroneal nerve pa...
...PMP22, PLLP, PLP1). Five other genes encode enzymes involved in the synthesis of myelin constituents (ASPA, UGT8), or ar...
...PMP22. The expression of p21 and p15(INK4b) contribute to decreased proliferation by blocking cell cycle progression at ...
...PMP22). The combination of vestibular loss and peripheral neuropathy led to profound imbalance at a young age. It is imp...
...PMP22 gene was quantified. The PMP22 duplication ratio ranged from 1.35 to 1.74, and the PMP22 deletion ratio from 0.41 ...
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