Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
暂无分享,去创建一个
S. Almashanu | T. Cowan | E. Sidransky | M. Blitzer | V. Koprivica | W. Holleran | E. Karson | N. Tayebi | A. Maddalena | B. Stubblefield | K. Reissner