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Nature Genetics|February 1, 1995
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer proteinK Ouahchi, M Arita, H Kayden, et al.Nature|February 25, 1993
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersJ Mosser, A M Douar, C O Sarde, et al.Nature Genetics|June 1, 1996
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeastJ Laporte, L J Hu, C Kretz, et al.Human Molecular Genetics|February 1, 1994
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane proteinJ Mosser, Y Lutz, M E Stoeckel, et al.American Journal of Human Genetics|December 1, 1992
Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locusS Belal, K Panayides, G Sirugo, et al.Human Genetics|March 1, 1988
Multilocus analysis of the fragile X syndromeW T Brown, A Gross, C Chan, et al.Journal of Medical Genetics|December 1, 1994
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)N Dahl, F Samson, N S Thomas, et al.Human Genetics|July 1, 1992
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatelliteR Fujita, G Sirugo, F Duclos, et al.American Journal of Human Genetics|January 1, 1991
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA)F Rousseau, A Vincent, S Rivella, et al.American Journal of Human Genetics|July 1, 1995
Genetic linkage heterogeneity in myotubular myopathyF Samson, L Mesnard, M Heimburger, et al.Pageof 20