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Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Efforts were directed to identify the specific mutations in the alpha-galactosidase A (alpha-Gal A) gene which cause Fabry disease in families of Japanese origin. By polymerase-chain-reaction-amplification of DNA from reverse-transcribed mRNA and genomic DNA, different point mutations were found in...
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| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
1990
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683686/ https://ncbi.nlm.nih.gov/pubmed/2171331 |
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