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Article

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

Journal of medical genetics - 1 Feb 2016

Edvardson Simon, Kose Shingo, Jalas Chaim, Fattal-Valevski Aviva, Watanabe Ai, Ogawa Yutaka, Mamada Hiroshi, Fedick Anastasia M, Ben-Shachar Shay, Treff Nathan R, Shaag Avraham, Bale Sherri, Gärtner Jutta, Imamoto Naoko, Elpeleg Orly

Abstract excerpt

BACKGROUND: Leukodystrophies are genetic white matter disorders affecting the formation or maintenance of myelin. Among the recently discovered genetic defects associated with leukodystrophies, several genes converge on a common mechanism involving protein transcription/translation and ER stress response. METHODS: The genetic basis of a novel congenital leukodystrophy, associated with early onset spastic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26545878
DOI: 10.1136/jmedgenet-2015-103232

Genes

HSF1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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