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Article

A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype.

Human molecular genetics - 1 Oct 2008

Rugless Michelle J, Fisher Chris A, Old John M, Sloane-Stanley Jacqueline, Ayyub Helena, Higgs Douglas R, Garrick David

Abstract excerpt

We have characterized a newly identified 16.6 kb deletion which removes a significant proportion of the human alpha-globin cluster including the psizeta1, alpha(D), psialpha1 and alpha2-globin genes but leaves the duplicated alpha1 gene intact. This complicated rearrangement results from a combination of slippage and strand switching at sites of microhomology during replication. Functional analysis shows that...

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PMID: 18632685
DOI: 10.1093/hmg/ddn205

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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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