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Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a...
保存先:
| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
1991
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016824/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1856829/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.4.241 |
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