title: First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient.
abstract: We present the first description of a Chinese patient with a rare β-thalassemia (β-thal) mutation IVS-I-130 (HBB: c.93-1G > C). This mutation is a splice donor site mutation, and is associated with a β(0)-thal phenotype.
authors.affiliation: Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhang
authors.forename: Chenguang
authors.initials: C
authors.lastname: Zheng
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wei
authors.forename: Yanqing
authors.initials: Y
authors.lastname: Tang
authors.forename: Qiuli
authors.initials: Q
authors.lastname: Chen
authors.forename: Shaoke
authors.initials: S
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D055544:beta-Globins
keywords: phenotype; splice acceptor site mutation; β-Thalassemia (β-thal)