Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

We have evaluated the feasibility of using PCR-based mutation screening for non-Jewish enzyme-defined carriers identified through Tay-Sachs disease-prevention programs. Although Tay-Sachs mutations are rare in the general population, non-Jewish individuals may be screened as spouses of Jewish carrie...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Akerman, B R, Natowicz, M R, Kaback, M M, Loyer, M, Campeau, E, Gravel, R A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1997
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712448/
https://ncbi.nlm.nih.gov/pubmed/9150157
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