1 the first nonsense mutation in a family with variegate porphyria.

2  the underlying mutation in this family with variegate porphyria.

3 cy porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with sk

4                                Patients with variegate porphyria and hereditary coproporphyria can pr

5 resulted from an acute hereditary porphyria, variegate porphyria, caused by deficiency of protoporphy

6                                              Variegate porphyria, caused by monoallelic variants in P

7 4 had acute intermittent porphyria and 1 had variegate porphyria, confirmed by biochemical and/or gen

8 result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX).

9 ablishes the molecular basis of "homozygous" variegate porphyria for the first time, in demonstrating

10 ic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and amin

11                                   Homozygous variegate porphyria is a severe skin and neurologic dise

12                                              Variegate porphyria is characterized by a partial reduct

13       We investigated the molecular basis of variegate porphyria, usually an autosomal dominantly inh

14                                              Variegate porphyria (VP) is a low penetrance, autosomal

15                                              Variegate porphyria (VP) is a low-penetrance, autosomal