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Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
Accurate clinical diagnosis of the spino-cerebellar ataxias (SCAs) can be diffcult because of overlap in phenotype with other disorders and variation in clinical manifestations. Six SCA loci have been mapped and four disease ...
A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family
A novel mutation at codon 441 in exon 10 of the adenomatous polyposis coli (APC) gene was identified in a South African family of mixed ancestry, using a convenient, non-radioactive, heteroduplex-SSCP screening assay. This ...
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene
Mutation analysis of the low density lipoprotein receptor (LDLR) gene revealed a novel 8-bp duplication after nucleotide 681 in a Costa Rican patient with familial hypercholesterolaemia. The frameshift caused by this ...