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  • Title: First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient.
    Author: He S, Zhang Q, Zheng C, Wei Y, Tang Y, Chen Q, Chen S.
    Journal: Hemoglobin; 2015; 39(4):290-1. PubMed ID: 26182339.
    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.
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