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Article

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.

Proceedings of the National Academy of Sciences of the United States of America - 5 Jul 1994

German J, Roe A M, Leppert M F, Ellis N A

Abstract excerpt

By the principle of identity by descent, parental consanguinity in individuals with rare recessively transmitted disorders dictates homozygosity not just at the mutated disease-associated locus but also at sequences that flank that locus closely. In 25 of 26 individuals with Bloom syndrome examined whose parents were related, a polymorphic tetranucleotide repeat in an intron of the protooncogene FES was...

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Source

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Identifiers

PMID: 8022833
DOI: 10.1073/pnas.91.14.6669
PMCID: PMC44264

Genes

FES
BLM

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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