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Article

[Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Jun 2019

Lou Tie, Huang Yingzhi, Dong Minyue

Abstract excerpt

OBJECTIVE: To analyze the genetic cause of a family with autosomal recessive neuronal ceroid lipofuscinoses (NCL). METHODS: The proband was screened for mutations within the coding region of the candidate genes through high-throughput targeted sequencing. Potential causative mutations were verified by PCR and Sanger sequencing in the proband and his parents. RT-PCR and TA clone sequencing were performed to...

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Identifiers

PMID: 31901039
DOI: 10.3785/j.issn.1008-9292.2019.08.04
PMCID: PMC8800761

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Source receipt: pubmed, retrieved 7 Sept 2026.

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