A novel mutation of -50 (G-->A) in the direct repeat element of the beta-globin gene identified in a patient with severe beta-thalassemia.
Li
Dong-Zhi
DZ
Liao
Can
C
Xie
Xing-Mei
XM
Zhou
Jian-Ying
JY
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012333:RNA, Messenger / Q000097:blood; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D012333:RNA, Messenger; D055544:beta-Globins