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Article

Positional candidate gene cloning of CLN1.

Advances in genetics - 1 Jan 2001

Hofmann S L, Das A K, Lu J Y, Soyombo A A

Abstract excerpt

Mutations in the CLN1 gene encoding palmitoyl-protein thioesterase (PPT) underlie the recessive neurodegenerative disorder, infantile Batten disease, or infantile neuronal ceroid lipofuscinosis (INCL). The CLN1 gene was mapped to chromosome 1p32 in the vicinity of a microsatellite marker HY-TM1 in a cohort of Finnish INCL families, and mapping of the PPT gene to the CLN1 critical region (and the discovery of...

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PMID: 11332777
DOI: 10.1016/s0065-2660(01)45004-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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