Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

In this report, we describe an approach to detect the presence of abnormal alleles in those genetic diseases in which frequency of occurrence of the same mutation is high (e.g., cystic fibrosis and sickle cell disease), and in others in which multiple mutations cause the disease and the sequence var...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Kuppuswamy, M N, Hoffmann, J W, Kasper, C K, Spitzer, S G, Groce, S L, Bajaj, S P
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1991
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC50973/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1671714/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.4.1143
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