Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.

Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish po...

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Detalles Bibliográficos
Autores principales: Yoo, H. W., Astrin, K. H., Desnick, R. J.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 1993
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053844/
https://www.ncbi.nlm.nih.gov/pubmed/8343225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053844/
https://www.ncbi.nlm.nih.gov/pubmed/8343225

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