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Volumn 59, Issue 4, 1999, Pages 289-291

Prevalence of the 985A > G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden

Author keywords

Fatty acid oxidation

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 0032769382     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.1080/00365519950185652     Document Type: Article
Times cited : (3)

References (11)
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  • 2
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    • 2 Gregersen N, Blakemore A, Winter V, et al. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. Clin Chim Acta 1991; 203: 23-34.
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  • 3
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    • 3 Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 1991; 49: 1280-91.
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  • 4
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  • 6
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    • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: The prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe
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  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.