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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...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Korean Academy of Medical Sciences
1993
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053844/ https://www.ncbi.nlm.nih.gov/pubmed/8343225 |