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Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Spontaneous mutation provides the substrate for evolution on one hand and for genetic susceptibility to disease on the other hand. X-linked diseases such as hemophilia B offer an opportunity to examine recent germ-line mutations in humans. By utilizing the direct sequencing method of genomic amplifi...

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Main Authors: Koeberl, D D, Bottema, C D, Ketterling, R P, Bridge, P J, Lillicrap, D P, Sommer, S S
格式: Artigo
語言:Inglês
出版: 1990
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683712/
https://ncbi.nlm.nih.gov/pubmed/2198809
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