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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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Dades bibliogràfiques
Publicat a:Proc Natl Acad Sci U S A
Autors principals: Bishop, D F, Kornreich, R, Desnick, R J
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 1988
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC280328/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2836863/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.11.3903
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