First detection of the splice donor site IVS-I-2 (T-->B) beta-thalassemia mutation in a Chinese patient.
We present the first description of a Chinese family with a rare b-thalassemia mutation commonly observed in black Americans. This mutation is a splice donor site mutation, and is associated with a phenotype of beta0-thalassemia.
Liao
Can
C
Li
Jian
J
Huang
Yining
Y
Li
Dongzhi
D
D000025:Abortion, Eugenic; D000328:Adult; D002675:Child, Preschool; D002681:China; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D022821:RNA Splice Sites / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000196:embryology / Q000208:ethnology / Q000235:genetics*
D022821:RNA Splice Sites; D005914:Globins