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Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

To date it has been difficult to characterize completely a genetic disorder, such as hemophilia A, in which the involved gene is large and unrelated affected individuals have different mutations, most of which are point mutations. Toward this end, we analyzed the DNA of 29 patients with mild-to-mode...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Higuchi, M, Antonarakis, S E, Kasch, L, Oldenburg, J, Economou-Petersen, E, Olek, K, Arai, M, Inaba, H, Kazazian, H H
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC52497/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1924291/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.19.8307
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