Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

doi:10.1038/1277

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Article

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

Nature genetics - 1 Aug 1998

Shimodaira H, Filosi N, Shibata H, Suzuki T, Radice P, Kanamaru R, Friend S H, Kolodner R D, Ishioka C

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC; OMIM 120435-6) is a cancer-susceptibility syndrome linked to inherited defects in human mismatch repair (MMR) genes. Germline missense human MLH1 (hMLH1) mutations are frequently detected in HNPCC (ref. 3), making functional characterization of m...

Topics

Adaptor Proteins, Signal Transducing
Carrier Proteins
Colorectal Neoplasms, Hereditary Nonpolyposis
DNA Repair
Genes, Dominant
Genetic Variation
Genetic Vectors
Humans
MutL Protein Homolog 1
Mutagenesis
Mutation
Neoplasm Proteins
Nuclear Proteins
Saccharomyces cerevisiae

Source

Open in PubMed

Identifiers

PMID: 9697702
DOI: 10.1038/1277

Genes

MLH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9697702-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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