Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

相似書籍

• Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
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  由: Dahl, H H, et al.
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  由: Firgaira, F A, et al.
  出版: (1981)