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XB--481037
Papers associated with gjb1 (and OMIM)
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Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32., Abrams CK, Freidin M, Bukauskas F, Dobrenis K, Bargiello TA, Verselis VK, Bennett MV, Chen L, Sahenk Z., J Neurosci. November 19, 2003; 23 (33): 10548-58. |
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Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J, Trexler EB, Bukauskas FF, Bargiello TA, Verselis VK., J Gen Physiol. October 1, 2003; 122 (4): 389-405.  |
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Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease., Abrams CK, Freidin MM, Verselis VK, Bennett MV, Bargiello TA., Dev Biol. May 4, 2001; 900 (1): 9-25. |
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