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41,104 results
  • Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China. [Journal Article]
  • JCJ Clin Lab Anal 2018 Sep 17; :e22665
  • Li L, Qin Y, … Ren Y
  • CONCLUSIONS: (a) The patient was the first case of clinical diagnosis of BH4 deficiency in the Uighur. And there are two types of hyperphenylalaninemia (HPA) in the same family. (b) The mild HPA patient with severe nervous system damage should pay more attention to the BH4 deficiency. (c) Using next-generation sequencing technology can increase the mutation detection rate when the hereditary diseases are highly suspected in clinic.
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