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Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.

Abstract:

Several countries include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a rare autosomal recessive disease, in their newborn screening programmes despite prevalence uncertainty. We estimated the frequency of its most common mutation, c.985A>G, tested for regional differences and compared screening and genotype frequencies. We identified 43 studies reporting the frequency of c.985A>G over 10 million individuals, and pooled frequency data using a novel Bayesian approach. We found...

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Publication status:
Published

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Publisher copy:
10.1111/cge.12157

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Institution:
University of Oxford
Department:
Oxford, MSD, Population Health
Dezateux, C More by this author
Journal:
Clinical genetics
Volume:
85
Issue:
3
Pages:
253-259
Publication date:
2014-03-05
DOI:
EISSN:
1399-0004
ISSN:
0009-9163
URN:
uuid:89ed1d4b-3509-4e0c-9e78-9b5c55310c40
Source identifiers:
382776
Local pid:
pubs:382776

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