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...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Rugless, M, Fisher, C, Old, J, Sloane-Stanley, J, Ayyub, H, Higgs, D, Garrick, D
বিন্যাস: Journal article
ভাষা:English
প্রকাশিত: 2008

অনুরূপ উপাদানগুলি