Article
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Molecular genetics and metabolism - 1 Dec 2012
Rodríguez-Pascau Laura, Toma Claudio, Macías-Vidal Judit, Cozar Mónica, Cormand Bru, Lykopoulou Lilia, Coll Maria Josep, Grinberg Daniel, Vilageliu Lluïsa
Abstract excerpt
Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal disorder characterised by the accumulation of a complex pattern of lipids in the lysosomal-late endosomal system. More than 300 disease-causing mutations have been identified so far in the NPC1 and NPC2 genes, including indel, missense, nonsense and splicing mutations. Only one genomic deletion, of more than 23 kb, has been previously reported....
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