A novel mutation identified in carnitine palmitoyltransferase II deficiency.
A novel mutation identified in carnitine palmitoyltransferase II deficiency.
复制标题
肉毒碱棕榈酰转移酶 II 缺乏症中发现的新突变。
DOI：
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发表时间：
1998
影响因子：
3.8
通讯作者：
C. Roe
中科院分区：
文献类型：
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作者：
B. Z. Yang;J. Ding;D. Roe;T. Dewese;D. Day;C. Roe
肉毒碱棕榈酰转移酶II（CPT II）缺乏症是一种线粒体脂肪酸氧化的常染色体隐性遗传病，表现为三种不同的表型（新生儿、婴儿和成人发病）。CPT II外显子从成人发病CPT II缺陷的患者进行了扩增和直接测序，以进一步研究这种疾病的分子基础。在肉毒碱棕榈酰转移酶II基因的外显子4中发现了一个新的突变，C471T，该突变在蛋白质的第124位残基（R124Stop）处产生了终止密码子TGA。这种突变会导致严重的蛋白质截短。这种独特的突变被发现在一个等位基因，而S113L突变，以前报道，存在于其他等位基因。
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of mitochondrial fatty-acid oxidation which presents as three distinct phenotypes (neonatal, infantile, and adult onset). CPT II exons from an adult-onset CPT II-deficient patient were amplified and directly sequenced to further investigate the molecular basis of this disorder. A novel mutation, C471T, in exon 4 of the carnitine palmitoyltransferase II gene was found which created a stop codon, TGA, at residue 124 of the protein (R124Stop). This mutation would result in severe protein truncation. This unique mutation was found on one allele while the S113L mutation, previously reported, was present on the other allele.
影响因子：
9.8
作者：
J. L. Hove;Wen Zhang;S. Kahler;C. Roe;Yuan-Tsong Chen;N. Terada;D. Chace;A. K. lafolla;
通讯作者：
J. L. Hove;Wen Zhang;S. Kahler;C. Roe;Yuan-Tsong Chen;N. Terada;D. Chace;A. K. lafolla;
DOI：
10.1002/dmr.5610050305
发表时间：
1989-05-01
期刊：
DIABETES-METABOLISM REVIEWS
影响因子：
--
作者：
MCGARRY, JD;WOELTJE, KF;FOSTER, DW
通讯作者：
FOSTER, DW