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Human Genetics|April 1, 1997
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)E A Janssen, S Kemp, G W Hensels, et al.
Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
Neuromuscular Disorders : NMD|January 1, 1991
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research GroupP Raeymaekers, V Timmerman, E Nelis, et al.
Neurology|March 1, 1986
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onsetM de Visser, H R Scholte, R B Schutgens, et al.
Molecular Microbiology|September 14, 2001
A novel two-component regulatory system in Bacillus subtilis for the survival of severe secretion stressH L Hyyryläinen, A Bolhuis, E Darmon, et al.
Neurology|January 1, 1993
Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathyN H Herzberg, M J van Schooneveld, E M Bleeker-Wagemakers, et al.
American Journal of Human Genetics|January 1, 1995
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinM J Ligtenberg, S Kemp, C O Sarde, et al.
Nature Genetics|December 1, 1992
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1AL J Valentijn, F Baas, R A Wolterman, et al.
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