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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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Bibliographische Detailangaben
Veröffentlicht in:Clin Mol Pathol
Hauptverfasser: Madsen, Kirsten Marie, Hasholt, Lis, Berger, Johannes, Sørensen, Sven Asger
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 1996
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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