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Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation withi...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
The American Society of Human Genetics
2001
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1226071/ https://ncbi.nlm.nih.gov/pubmed/11509994 |
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