Dystrophin and mutations: one gene, several proteins, multiple phenotypes
作者： Francesco Muntoni , Silvia Torelli , Alessandra Ferlini
DOI: 10.1016/S1474-4422(03)00585-4
关键词:
摘要: A large and complex gene on the X chromosome encodes dystrophin. Many mutations have been described in this gene, most of which affect the expression of the muscle isoform, the …
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