论文信息 - First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient

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 β0-thal phenotype.

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