Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
作者信息
Nakahashi Y, Miyazaki H, Kadota Y, Naitoh Y, Inoue K, Yamamoto M, Hayashi N, Taketani S
机构信息
Third Department of Internal Medicine, Kansai Medical University, Osaka, Japan.
出版信息
Hum Mol Genet. 1993 Jul;2(7):1069-70. doi: 10.1093/hmg/2.7.1069.
PMID:8364548
Abstract
摘要
Zotero 插件