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Article

Molecular genetic testing for neuronal ceroid lipofuscinoses.

Advances in genetics - 1 Jan 2001

Zhong N

Abstract excerpt

Eight different NCL forms have been recognized to be encoded by genes CLN1-8. CLN1,2,3,5,and 8 have been cloned, and at least 85 mutations have been detected. Molecular technology can now be applied to genetic testing for NCLs; testing is now available in clinic diagnostic and research laboratories for CLN genes that have been cloned. Molecular genetic testing makes it possible not only to confirm clinical and...

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Source

Identifiers

PMID: 11332770
DOI: 10.1016/s0065-2660(01)45008-5

Genes

NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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