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Article

Four single-nucleotide polymorphisms in the human BUB1 gene.

Journal of human genetics - 1 Jan 2001

Kanbe T, Nobukuni T, Kawasaki H, Sekiya T, Murakami Y

Abstract excerpt

Four single-nucleotide polymorphisms have been found in the human BUB1 gene, which encodes a kinase involved in the mitotic spindle checkpoint. A cytosine-to-thymine change in exon 10, corresponding to codon 375 (c.1124C>T), causes an amino acid substitution of serine to phenylalanine. A guanine/cytosine polymorphism in exon 4 (c.279G>C) and a thymine/cytosine polymorphism in exon 12 (c.1293T>C) do not cause...

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Identifiers

PMID: 11310583
DOI: 10.1007/PL00010920

Genes

BUB1

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.

Related research

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Four single-nucleotide polymorphisms in the human BUB1 gene.PMID 11310583Read ↗

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Mutation and expression analysis of human BUB1 and BUB1B in aneuploid breast cancer cell lines.Semantic proximity Read ↗

TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.Semantic proximity Read ↗

The promoter region of the human BUBR1 gene and its expression analysis in lung cancer.Semantic proximity Read ↗

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