Objective To obtain the mutation spectrum of glucose-6-phosphatase ( G6Pase) gene in Chinese patients with glycogen storage disease type ⅰ a ( GSD ⅰ a) and to analyze the relationship of its genotype and phenotype.

  • 目的了解中国人葡萄糖6磷酸酶(G6Pase)基因突变谱和突变热点,并分析糖原累积病Ⅰa型(GSDⅠa)基因型和临床表型的相关性。

  • 互联网摘选 2025-01-19 22:38:15

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