- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1111/cge.12157
-
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- 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
- Language:
- English
- Keywords:
- Copyright date:
- 2014
Journal article
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.
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