Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY)...
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
1976
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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/PMC1013470/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/828204/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.6.455 |
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