Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.
复制标题
肝肾酪氨酸血症小鼠模型的代谢研究：不存在围产期异常。
DOI：
10.1016/s0006-291x(05)81498-6
复制
发表时间：
1992
影响因子：
3.1
通讯作者：
Gluecksohn-Waelsch,S
中科院分区：
文献类型：
--
作者：
Collins,JC;Buchanan,DN;Thoene,JG;Erickson,RP;Brooks,SS;Gluecksohn-Waelsch,S
Radiation induced chromosomal deletions at the albino locus in the mouse, lethal when homozygous, cause abnormalities of expression of several unlinked liver specific genes. Recently, the gene encoding FAH was shown to be included in the deletions. Since in humans FAH mutations cause tyrosinemia type I, deletion homozygous mice were suspected of having tyrosinemia. Studies of plasma amino acids did not confirm this suspicion. Also, succinylacetone levels were normal in fetal and newborn livers of deletion homozygotes. The present evidence, therefore, does not support the assumption that the earlier described ultrastructural and enzyme abnormalities in deletion homozygotes are secondary effects of tyrosinemia caused by the deletion of FAH.
