Fifteen novel mutations in the SLC25A13 gene of citrin-deficient patients from different countries.
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The bold black letters denote the novel mutations, “N” indicates the normal SLC25A13 allele, while “–” means not analyzed. The effects and frequency refer to the corresponding novel mutations. The frequency was calculated based on the screening result by PCR-RFLP (△) or direct DNA sequencing approach (▴), respectively.
创建时间：
2015-12-02
