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Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

Lysosomal beta-hexosaminidase (EC 3.2.1.52) is composed of two structurally similar chains, alpha and beta, that are the products of different genes. Mutations in either gene causing beta-hexosaminidase deficiency result in the lysosomal storage disease GM2-gangliosidosis. To enable the investigatio...

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Bibliografiske detaljer
Hovedforfatter: Proia, R L
Format: Artigo
Sprog:Inglês
Udgivet: 1988
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC279885/
https://ncbi.nlm.nih.gov/pubmed/2964638
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