II型黏多糖贮积症基因型与表型相关性的注意事项：艾杜糖醛酸-2-硫酸酯酶基因R468W和R468Q突变的临床严重程度不一致 - Suppr

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超能文献

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.

作者信息

Whitley C B, Anderson R A, Aronovich E L, Crotty P L, Anyane-Yeboa K, Russo D, Warburton D

机构信息

Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455.

出版信息

Hum Mutat. 1993;2(3):235-7. doi: 10.1002/humu.1380020313.

DOI:10.1002/humu.1380020313

PMID:8364592

Abstract

摘要

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