Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles. It was found more frequently in subjects of Irish, Scottish, and Welsh origin compared...

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Bibliographische Detailangaben
Hauptverfasser: Landels, E C, Green, P M, Ellis, I H, Fensom, A H, Kaback, M M, Lim-Steele, J, Zeiger, K, Levy, N, Bobrow, M
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016420/
https://ncbi.nlm.nih.gov/pubmed/8326491
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