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Article

Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon.

Journal of medical genetics - 1 Sept 2011

Pacho Frederic, Zambruno Giovanna, Calabresi Valentina, Kiritsi Dimitra, Schneider Holm

Abstract excerpt

BACKGROUND: Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R1159X), but was rescued by spontaneous read-through of the R943X allele. RESULTS AND CONCLUSION:...

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Source

Identifiers

PMID: 21693480
DOI: 10.1136/jmg.2011.089615

Genes

LAMA3

Variants

Provenance

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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