Authors
Muin J Khoury, Linda L McCabe, Edward RB McCabe
Publication date
2003/1/2
Source
New England Journal of Medicine
Volume
348
Issue
1
Pages
50-58
Publisher
Massachusetts Medical Society
Description
Newborns are now routinely screened for the presence of a number of inherited diseases. In these cases, early diagnosis allows treatment to be instituted before there are irreversible adverse consequences. However, as outlined in this installment in the Genomic Medicine series, clinical benefit can be derived from screening adults as well — not only for the genes associated with classic inherited conditions, such as cystic fibrosis and Tay–Sachs disease, but also for genes that are better considered risk factors for complex diseases, such as factor V Leiden and mutations associated with hereditary hemochromatosis.
Total citations
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Scholar articles
MJ Khoury, LL McCabe, ERB McCabe - New England Journal of Medicine, 2003