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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. Autozygome was also used to filter the variants from exome sequencing of four probands. RESULTS: In addition to...

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Source

Identifiers

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

Genes

FARS2
MFF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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