Whole exome sequencing for clarification of rare causes of axonal Charcot Marie Tooth disease
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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The project is focused on the axonal forms of Charcot-Marie-Tooth (CMT) disease. We have selected 13 families (7 from Spain and 6 from Czech Republic) that have been indepth clinically assessed and previously tested for mutations in known CMT genes without causal variants characterised. In these patients we expect to discover several CMT2 genes. Thus, we requested for exome sequencing of 45 DNAs:27 exomes in families from Spain and 18 exomes in the families from Czech Republic. This data is ... (Show More)
|Illumina HiSeq 2500||45|