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Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

We have localized the PvuII polymorphism of the glucocerebrosidase gene complex to intron 6 of the active gene. Using the polymerase chain reaction (PCR) to amplify intron 6 of DNA samples from Pv1.1-/Pv1.1+ individuals, we defined the mutation causing this polymorphism as a G----A single-base subst...

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Bibliografiske detaljer
Main Authors: Zimran, A, Gelbart, T, Beutler, E
Format: Artigo
Sprog:Inglês
Udgivet: 1990
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683587/
https://ncbi.nlm.nih.gov/pubmed/1971142
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