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Article

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

European journal of human genetics : EJHG - 1 Dec 2010

García-Villoria Judit, Gort Laura, Madrigal Irene, Fons Carme, Fernández Cristina, Navarro-Sastre Aleix, Milà Montserrat, Briones Paz, García-Cazorla Angeles, Campistol Jaume, Ribes Antonia

Abstract excerpt

17β-Hydroxysteroid dehydrogenase 10 (HSD10) is a mitochondrial enzyme involved in the degradation pathway of isoleucine and branched-chain fatty acids. The gene encoding HSD10, HSD17B10, has been reported as one of the few genes that escapes X-inactivation. We previously studied two female patien...

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Identifiers

PMID: 20664630
DOI: 10.1038/ejhg.2010.118
PMCID: PMC3002859

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20664630-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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