Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

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作者： Mustafa,Kılıç ^[1] ; Bekir,Ergüner ^[2] ; Can,Koşukçu ^[3] ; Rıza Köksal,Özgül ^[3]

作者单位： Division of Metabolism, Dr. Sami Ulus Children Hospital, Ankara, Turkey. ^[1] TÜBİTAK, BİLGEM, Kocaeli, Turkey. ^[2] Division of Metabolism, Hacettepe University Children Hospital Ankara, Turkey. ^[3]

关键词 ACADS SCAD SCAD deficiency SCADD ethylmalonic aciduria short-chain acyl-CoA dehydrogenase deficiency

主题词酰基CoA脱氢酶(Acyl-CoA Dehydrogenase);基因频率(Gene Frequency);人类(Humans);脂质代谢缺陷, 先天性(Lipid Metabolism, Inborn Errors)

DOI 10.24953/turkjped.2020.01.003

PMID 32253862

发布时间 2022-05-31

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The Turkish journal of pediatrics

2020年62卷1期

19-23页

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Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

The Turkish journal of pediatrics

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The Turkish journal of pediatrics

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Detection of allele frequencies of common c. 511C&gt;T and c.625G&gt;A variants in the ACADS gene in the Turkish population.

The Turkish journal of pediatrics

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The Turkish journal of pediatrics

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Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.