先天性红细胞生成性卟啉病：尼泊尔患者中罕见的尿卟啉原III合酶基因突变病例系列 - Suppr

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Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.

作者信息

Bhusal Mohan, Bhattarai Sabina, Shah Mahesh, Khadka Anupa

机构信息

Nepal Plastic Cosmetic and Laser Center, Lalitpur, Nepal.

Department of Dermatology and Venereology, Kathmandu Medical College and Teaching Hospital, Kathmandu, Nepal.

出版信息

JAAD Case Rep. 2021 Feb 25;10:102-106. doi: 10.1016/j.jdcr.2021.02.017. eCollection 2021 Apr.

DOI:10.1016/j.jdcr.2021.02.017

PMID:33850991

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8022107/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/082e/8022107/8bef320adcb7/gr1.jpg

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Congenital erythropoietic porphyria: Recent advances.

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Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria.

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