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コーパス検索結果 (1語後でソート)

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1  the underlying mutation in this family with variegate porphyria.
2 the first nonsense mutation in a family with variegate porphyria.
3 cy porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with sk
4 resulted from an acute hereditary porphyria, variegate porphyria, caused by deficiency of protoporphy
5 result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX).
6 ablishes the molecular basis of "homozygous" variegate porphyria for the first time, in demonstrating
7                                   Homozygous variegate porphyria is a severe skin and neurologic dise
8                                              Variegate porphyria is characterized by a partial reduct
9       We investigated the molecular basis of variegate porphyria, usually an autosomal dominantly inh
10                                              Variegate porphyria (VP) is a low penetrance, autosomal
11                                              Variegate porphyria (VP) is a low-penetrance, autosomal

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