...PMP22) deletion was positive in all patients.,A high index of clinical suspicion and thorough electrodiagnostic evaluati...
...Pmp22, Nrp1, Gap43, Ndn) and smooth muscle differentiation (Madh3, Nrp1, Tagln Calponin, Caldesmon1). In contrast, genes...
...PMP22 gene.,The aim of this study was to describe different strategies used for clinical and molecular CNT1A diagnoses a...
...Pmp22) gene, is characterized by severe hypomyelination and is a representative model of Charcot-Marie-Tooth 1A (CMT1A) ...
...PMP22, the tumour necrosis factor (TNF) receptor gene, TNF receptor superfamily, member 21, and the mitochondrial comple...
...PMP22. Transfected cells were cultured with or without addition of ascorbic acid, vitamin A, vitamin E, or a cocktail of...
...PMP22 protein. We conclude that this novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with lia...
...PMP22 gene resulting in homozygous deletion of exons 2 and 3. The maternally inherited allele was the typical 1.5 Mb del...
...PMP22 gene expression by acting on intracellular cAMP concentrations. In this work, we present kinetics data on the inhi...
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