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Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Human molecular genetics - 1 Feb 1998

Mitchison H M, Hofmann S L, Becerra C H, Munroe P B, Lake B D, Crow Y J, Stephenson J B, Williams R E, Hofman I L, Taschner P E, Martin J J, Philippart M, Andermann E, Andermann F, Mole S E, Gardiner R M, O'Rawe A M

Abstract excerpt

A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence supporting linkage of this phenotype, designated vJNCL/GROD, to the INCL region of chromosome 1p32 was demonstrated (pairwise lod score with D1S211 , Z max = 2.63,...

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PMID: 9425237
DOI: 10.1093/hmg/7.2.291

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NCL

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Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.PMID 9425237Read ↗

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