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Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
Fabry disease is an X linked recessive disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase (alpha-gal). Measurement of the enzyme activity, however, is not an accurate method for identification of female carriers among at risk relatives...
保存先:
| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
1991
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016823/ https://ncbi.nlm.nih.gov/pubmed/1677424 |
| タグ: |
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