Identifying autosomal recessive mutations causing neurological disorders
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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The objective of this study is to resequence of targeted intervals containing autosomal recessive variants causing neurological disorders in consanguineous pedigrees. Using homozygosity mapping, three intervals of very different sizes have previously been unambiguously mapped for three different neurological diseases: 2.4Mb, 8Mb and 14.3Mb in size, for Microlissencephaly, Severe Mental Retardation and Complicated hereditary spastic paraplegia respectively. This study is a pilot to assess how ... (Show More)
|Illumina Genome Analyzer II||3|