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Article

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

The Journal of dermatology - 1 Jun 2022

Suzuki Haru, Namiki Takeshi, Enzan Naoko, Tanaka Atsushi, Nakano Hajime

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PMID: 35229343
DOI: 10.1111/1346-8138.16340

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Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female.PMID 35229343Read ↗

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Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.Semantic proximity Read ↗

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case ReportSemantic proximity Read ↗

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.Semantic proximity Read ↗

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