Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female

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Published in:Journal of dermatology 2022-06, Vol.49 (6), p.e215-e216
Main Authors: Suzuki, Haru, Namiki, Takeshi, Enzan, Naoko, Tanaka, Atsushi, Nakano, Hajime
Format: Article
Language:English
Subjects:
Aged
Female
Humans
Japan
Mutation
Mutation, Missense
Pedigree
Porphyria
Porphyria, Erythropoietic - diagnosis
Porphyria, Erythropoietic - genetics
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description
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ispartof Journal of dermatology, 2022-06, Vol.49 (6), p.e215-e216
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source Wiley-Blackwell Read & Publish Collection
subjects Aged
Female
Humans
Japan
Mutation
Mutation, Missense
Pedigree
Porphyria
Porphyria, Erythropoietic - diagnosis
Porphyria, Erythropoietic - genetics
title Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female
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