Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Natowicz, M R"'
We have evaluated the feasibility of using PCR-based mutation screening for non-Jewish enzyme-defined carriers identified through Tay-Sachs disease-prevention programs. Although Tay-Sachs mutations are rare in the general population, non-Jewish indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::64665c6c27fed31af9a7cc8533f82134
https://europepmc.org/articles/PMC1712448/
https://europepmc.org/articles/PMC1712448/
Pelizaeus-Merzbacher disease (PMD) is a clinically heterogeneous, slowly progressive leukodystrophy. The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-base
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bafc8422c1a21390e888d36459b17dfd
https://europepmc.org/articles/PMC1682866/
https://europepmc.org/articles/PMC1682866/
The use of genetic tests can lead to genetic discrimination, discrimination based solely on the nature of an individual's genotype. Instances of the discriminatory uses of genetic tests by employers and insurance companies have already been reported.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c8bccfd656b222e6ba034e25b0328162
https://europepmc.org/articles/PMC1684277/
https://europepmc.org/articles/PMC1684277/
Genetic discrimination refers to discrimination directed against an individual or family based solely on an apparent or perceived genetic variation from the "normal" human genotype. We describe here the results of a case history study designed to ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::efe6cd395eeca0326b3926a82d4a29d2
https://europepmc.org/articles/PMC1684266/
https://europepmc.org/articles/PMC1684266/
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Journal of Medical Genetics; Oct1996, Vol. 33 Issue 10, p829-832, 4p, 1 Diagram, 2 Charts
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Aug1998, p251-254, 4p
Autor:
Akerman, B. R., Zielenski, J., Triggs-Raine, B. L., Prence, E. M., Natowicz, M. R., Lim-Steele, J. S. T., Kaback, M. M., Mules, E. H., Thomas, G. H., Clarke, J. T. R., Gravel, R. A.
Publikováno v:
Human Mutation; 1992, Vol. 1 Issue 4, p303-309, 7p