Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozym...

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Argitaratua izan da:	J Clin Invest
Egile Nagusiak:	Neote, K, McInnes, B, Mahuran, D J, Gravel, R A
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	American Society for Clinical Investigation 1990
Gaiak:	Research Article
Sarrera elektronikoa:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296899/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2147027/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114871
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