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Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE).

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Feb 2005

Zhong Nanbert, Ju Weina, Moroziewicz Dorota, Wronska Anetta, Li Marilyn, Wisniewski Krystyna, Brooks Susan Sklower, Jenkins Edmund, Brown W Ted

Abstract excerpt

Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN(1 ) and CLN(2), respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutation(s) have been identified. Molecular testing with allele-specific primer extension and DNA...

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PMID: 15719035

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NCL

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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