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Article

[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2012

Guo Mang-mang, Jiang Yu-wu, Xie Han, Wu Ye, Shang Jing, Gu Qiang, Wu Xi-ru, Wang Jing-min

Abstract excerpt

OBJECTIVE: To explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC). METHOD: Genomic DNA samples were extracted from peripheral blood of the proband and her parents. All exons and exon-intron boundaries of HEPACAM and MLC1 were amplified in the MLC family by polymerase chain reaction (PCR) followed by direct DNA sequencing. RESULT: Two heterozygous...

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Source

Identifiers

PMID: 23324143

Genes

HEPACAM
MLC1

Variants

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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