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Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/927883
Description: Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and... More
Reviewed: Reviewed
Date: 2010
Keyword: CUL4A | CUL4B | DNA | pathogenesis
Resource Type: journal article
Identifier: uon:9647
Description: CUL4A and B encode subunits of E3-ubiquitin ligases implicated in diverse processes including nucleotide excision repair, regulating gene expression and controlling DNA replication fork licensing. But... More
Reviewed: Reviewed
Date: 2009
Resource Type: journal article
Identifier: uon:7942
Description: Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequ... More
Reviewed: Reviewed
Date: 2008
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/43193
Description: Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman sy... More
Reviewed: Reviewed
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