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Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

Human alpha-galactosidase A (alpha-D-galactoside galactohydrolase; EC 3.2.1.22) is a lysosomal hydrolase encoded by a gene localized to the chromosomal region Xq22. The deficient activity of this enzyme results in Fabry disease, an X chromosome-linked recessive disorder that leads to premature death...

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Hlavní autoři: Bishop, D F, Kornreich, R, Desnick, R J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1988
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC280328/
https://ncbi.nlm.nih.gov/pubmed/2836863
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