Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

标题
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 76, Issue 3, Pages 263-269
出版商
Wiley
发表日期
2009-09-25
DOI
10.1111/j.1399-0004.2009.01216.x

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