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Article

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

Journal of medical genetics - 1 Apr 2012

Shamseldin Hanan E, Alshammari Muneera, Al-Sheddi Tarfa, Salih Mustafa A, Alkhalidi Hisham, Kentab Amal, Repetto Gabriela M, Hashem Mais, Alkuraya Fowzan S

Abstract excerpt

OBJECTIVE: To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. METHODS: Autozygome was used to highlight candidate genes for direct sequencing in 10 probands, all born to consanguineous parents...

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Source

Identifiers

PMID: 22499341
DOI: 10.1136/jmedgenet-2012-100836

Genes

FARS2
MFF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22499341-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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