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首页> 外文期刊>Molecular genetics and metabolism >The 'Arctic Variant' specific mutation p4791 in CPT1A gene predisposing to carnitine palmitoyltransferase-1A deficiency in two Russian far north aboriginal populations: A retrospective genotyping of newborn screening cards

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The 'Arctic Variant' specific mutation p4791 in CPT1A gene predisposing to carnitine palmitoyltransferase-1A deficiency in two Russian far north aboriginal populations: A retrospective genotyping of newborn screening cards

机译：CPT1A基因中的“北极变异”特异性突变p4791导致两个俄罗斯远北原住民肉碱肉碱棕榈酰转移酶-1A缺乏：新生儿筛查卡的回顾性基因分型

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来源
《Molecular genetics and metabolism 》 |2015年第3期| 共1页
作者
Smolnikova Marina V.; Tereshchenko Sergey Y.; Freidin Maxim B.;
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正文语种 eng
中图分类内分泌腺疾病及代谢病 ;
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1. The "Arctic Variant" specific mutation p4791 in CPT1A gene predisposing to carnitine palmitoyltransferase-1A deficiency in two Russian far north aboriginal populations: A retrospective genotyping of newborn screening cards [J] . Smolnikova Marina V., Tereshchenko Sergey Y., Freidin Maxim B. Molecular genetics and metabolism . 2015 ,第3期

机译：CPT1A基因中的“北极变异”特异性突变p4791导致两个俄罗斯远北原住民肉碱肉碱棕榈酰转移酶-1A缺乏：新生儿筛查卡的回顾性基因分型
2. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. [J] . Stadler SC, Polanetz R, Maier EM, Human mutation . 2006 ,第8期

机译：新生儿筛查3-甲基巴豆酰辅酶A羧化酶缺乏症：MCCA和MCCB突变的人群异质性及其对风险评估的影响。
3. Prospective echocardiographic and tissue Doppler imaging screening of a population of Maine Coon cats tested for the A31P mutation in the myosin-binding protein C gene: a specific analysis of the heterozygous status [J] . Carlos Sampedrano C, Chetboul V, Mary J, Journal of Veterinary Internal Medicine . 2009 ,第1期

机译：对缅因库恩猫的前瞻性超声心动图和组织多普勒成像筛查，测试了肌球蛋白结合蛋白C基因中的A31P突变：杂合状态的特异性分析
4. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency [O] . Leah Dowsett, Lauren Lulis, Can Ficicioglu, -1

机译：遗传测试的效用用于确认长链脂肪酸疾病的异常新生儿筛查：肉碱棕榈酸转移酶1A（CPT1A）缺乏症
5. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency [O] . Leah Dowsett, Lauren Lulis, Can Ficicioglu, 2017

机译：遗传检测对长链脂肪酸疾病中异常新生儿筛查的遗传测试：肉毒氨基棕榈酰转移酶1A（CPT1A）缺乏的错过案例

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