نتایج جستجو برای: pmp22
تعداد نتایج: 356 فیلتر نتایج به سال:
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in p1 l.2-pl2. This region contains PMP22, a gene expressed in peripheral myein. The mutation results from an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region. The reciprocal product of this recombmation is a dele...
Burry et al, Percutaneous absorption of progesterone in postmenopausal women treated with transdermal estrogen, Am J The efficacy of progesterone in achieving successful pregnancy: II. In women with pure luteal phase defect, Desarnaud et al, Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 (PMP22) and protein zero genes in Schwann cells. Felson et al, The ef...
The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. ...
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