A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany
Author:
Publisher
Elsevier BV
Subject
Cellular and Molecular Neuroscience,Molecular Biology
Reference17 articles.
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3. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin32;Anzini;J. Neurosci.,1997
4. An A/G polymorphism in the promoter of mitochondrial aldehyde dehydrogenase (ALDH2): effects of the sequence variant on transcription factor binding and promoter strength;Chou;Alcohol Clin. Exp. Res.,1999
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2. −459C>T point mutation in 5′ non-coding region of humanGJB1gene is linked to X-linked Charcot-Marie-Tooth neuropathy;Journal of the Peripheral Nervous System;2009-03
3. Molecular genetics of X-linked Charcot-Marie-Tooth disease;NeuroMolecular Medicine;2006-03
4. Molecular genetics of X-linked Charcot-Marie-Tooth disease;NEUROMOL MED;2006
5. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE;Neuromuscular Disorders;2006-01
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