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Article

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.

Human molecular genetics - 15 Mar 2001

Guan M X, Fischel-Ghodsian N, Attardi G

Abstract excerpt

The pathogenetic mechanism of the human mitochondrial 12S rRNA gene mutation at position 1555, associated with non-syndromic deafness and aminoglycoside-induced deafness, has been investigated in 33 transformants obtained by transferring mitochondria from lymphoblastoid cell lines into human mitochondrial DNA (mtDNA)-less (rho *206) cells. In this nearly constant nuclear background, 15 transformants derived from...

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PMID: 11230176
DOI: 10.1093/hmg/10.6.573

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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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