MISSENSE MUTATION IN THE ADENINE PHOSPHORIBOSYLTRANSFERASE GENE CAUSING 2,8-DIHYDROXYADENINE UROLITHIASIS

被引：11
|
作者：
SAHOTA, A
CHEN, J
BOYADJIEV, SA
GAULT, MH
TISCHFIELD, JA
机构：
[1] UNIV SOFIA,CHILDRENS HOSP,DEPT CLIN GENET,SOFIA,BULGARIA
[2] MEM UNIV NEWFOUNDLAND,DEPT MED,ST JOHNS A1B 3V6,NF,CANADA
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 05期
关键词：
D O I：
10.1093/hmg/3.5.817
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：817 / 818
页数：2
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