[The distribution of mutations was extensive, ranging from the simple -α(3.7) genotype to severe nondeletional type α-thalassemias such as the polyadenylation signal (polyA1) [α(PA-1) (AATAAA>AATAAG)], polyA2 [α(PA-2) (AATAAA>AATGAA)], Hb Constant Spring [Hb CS, α142 (α(CS)α/α(CS)α) TAA>CAA (α2)] and pentanucleotide deletion [α(-5 nt) (GAGGTGAGG>GAGG)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE