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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Detaylı Bibliyografya
Asıl Yazarlar: Kuppuswamy, M N, Hoffmann, J W, Kasper, C K, Spitzer, S G, Groce, S L, Bajaj, S P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1991
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC50973/
https://ncbi.nlm.nih.gov/pubmed/1671714
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