在常染色体慢性肉芽肿病中鉴定出一个导致p22-吞噬氧化酶第5外显子缺失的供体剪接位点突变。 - Suppr | 超能文献

Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.

作者信息

Porter C D, Parkar M H, Kinnon C

机构信息

Division of Cell and Molecular Biology, Institute of Child Health, London, United Kingdom.

出版信息

Hum Mutat. 1996;7(4):374. doi: 10.1002/humu.1380070402.

DOI:10.1002/humu.1380070402

Abstract

摘要

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