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SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease
To investigate the distribution of a single base pair mutation within a family with one known case of Fabry disease, DNA from paraffin wax embedded necropsy material was studied using single-strand conformation polymorphism (SSCP) analysis. The proband, who presented with an atypical form of Fabry d...
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| Veröffentlicht in: | Clin Mol Pathol |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
1996
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC408079/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/16696095/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/mp.49.5.m310 |
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