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Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence.

The present study was designed to elucidate the molecular genetic basis of a familial deficiency of alpha 2-plasmin inhibitor (alpha 2PI). Southern blot hybridization analysis with human alpha 2PI cDNA and genomic DNA probes demonstrated no gross deletion or rearrangement of the gene. By sequencing...

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Main Authors: Miura, O, Hirosawa, S, Kato, A, Aoki, N
格式: Artigo
語言:Inglês
出版: 1989
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC303866/
https://ncbi.nlm.nih.gov/pubmed/2496145
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