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Article

Novel mutations of the MLC1 gene in Turkish patients.

European journal of medical genetics - 1 Jan 2000

Yüzbaşioğlu Ayşe, Topçu Meral, Cetin Kocaefe Y, Ozgüç Meral

Abstract excerpt

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a rare autosomal recessive disease presenting with increased head circumference at birth or in early infancy. MLC1 (MIM 605908) mutations are responsible for this disorder. In this study, we sequenced the entire coding region of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21145992
DOI: 10.1016/j.ejmg.2010.11.014

Genes

MLC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21145992-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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