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Article

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

Human genetics - 1 Feb 2001

Ellis N A, Ciocci S, German J

Abstract excerpt

A unique and constant feature of Bloom syndrome (BS) cells is an excessive rate of sister-chromatid exchange (SCE). However, in approximately 20% of persons with typical BS, mosaicism is observed in which a proportion of lymphocytes (usually a small one) exhibits a low-SCE rate. Persons with such mosaicism predominantly are genetic compounds for mutation at BLM, and the low-SCE lymphocytes are the progeny of a...

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Identifiers

PMID: 11281456
DOI: 10.1007/s004390000447

Genes

BLM

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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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Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.PMID 11281456Read ↗

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