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Article

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Molecular genetics and metabolism - 1 May 2004

Bykhovskaya Yelena, Mengesha Emebet, Wang Dai, Yang Huiying, Estivill Xavier, Shohat Mordechai, Fischel-Ghodsian Nathan

Abstract excerpt

Phenotypic expression of the deafness-associated homoplasmic A1555G mutation in the mitochondrial 12S rRNA gene varies from profound congenital hearing loss to normal hearing. It has been shown that this variability in clinical expression in most patients is due to the complex inheritance of multiple nuclear-encoded modifier genes. Human mitochondrial transcription factor B1 (TFB1M) has been proposed as a...

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Source

Identifiers

PMID: 15110318
DOI: 10.1016/j.ymgme.2004.01.020

Genes

NPL

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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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