苯丙氨酸羟化酶缺乏症家系PAH基因新发突变分析
马翠霞, 封露露, 李丽欣, 马倩倩, 李扬, 封纪珍
Analysis on de novo mutations in PAH genes of the family with phenylalanine hydroxylase deficiency
Ma Cuixia, Feng Lulu, Li Lixin, Ma Qianqian, Li Yang, Feng Jizhen
临床荟萃
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2022, (5): 441
-446
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DOI: 10.3969/j.issn.1004-583X.2022.05.010
