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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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Detalhes bibliográficos
Main Authors: Madsen, Kirsten Marie, Hasholt, Lis, Berger, Johannes, Sørensen, Sven Asger
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC408079/
https://ncbi.nlm.nih.gov/pubmed/16696095
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