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

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

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 combinati...

書誌詳細
主要な著者:	Rugless, M, Fisher, C, Old, J, Sloane-Stanley, J, Ayyub, H, Higgs, D, Garrick, D
フォーマット:	Journal article
言語:	English
出版事項:	2008

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