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Article

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Human mutation - 1 Jan 2003

Rubie Claudia, Lichtner Peter, Gärtner Jutta, Siekiera Markus, Uziel Graziella, Kohlmann Bernd, Kohlschütter Alfried, Meitinger Thomas, Stöber Gerald, Bettecken Thomas

Abstract excerpt

The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant alleles were detected: one case of compound heterozygosity for a splice site mutation and a...

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Source

Identifiers

PMID: 12497630
DOI: 10.1002/humu.10145

Genes

MLC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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