Article
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.
Molecular genetics and metabolism - 1 Jan 2008
Bessa C, Teixeira C A, Dias A, Alves M, Rocha S, Lacerda L, Loureiro L, Guimarães A, Ribeiro M G
Abstract excerpt
The classical form of late infantile neuronal ceroid lipofuscinosis (LINCL) is a childhood hereditary neurodegenerative disease usually fatal in the first decade of life. The underlying gene, CLN2, encodes the lysosomal soluble enzyme tripeptidyl-peptidase 1 (TPP1). In a Portuguese patient with juvenile form of the disease, the histochemical study revealed the presence of curvilinear inclusions typical of LINCL....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.