Article

Allele variation in the ferrochelatase gene in a Chinese pedigree of erythropoietic protoporphyria

2022-08-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Erythropoietic protoporphyria (EPP) is characterized by photosensitive skin lesions and various liver injuries. EPP is an inherited disease closely related to single nucleotide polymorphisms (SNPs) in the ferrochelatase gene ( FECH ). We aim to analyze FECH mutations in a Chinese pedigree in order to help clarify the disease’s pattern of inheritance. <bold>Resul...

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Literature Corpus work: e1e94069-9f0a-53ac-9b74-17d9d8fcd88d
DOI: 10.21203/rs.3.rs-1880998/v1

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