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Article

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

The Journal of biological chemistry - 26 Dec 2003

Williams R Scott, Chasman Daniel I, Hau D Duong, Hui Benjamin, Lau Albert Y, Glover J N Mark

Abstract excerpt

Most cancer-associated BRCA1 mutations identified to date result in the premature translational termination of the protein, highlighting a crucial role for the C-terminal, BRCT repeat region in mediating BRCA1 tumor suppressor function. However, the molecular and genetic effects of missense mutat...

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Source

Identifiers

PMID: 14534301
DOI: 10.1074/jbc.M310182200

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14534301-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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