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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Miura, O, Hirosawa, S, Kato, A, Aoki, N
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1989
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC303866/
https://ncbi.nlm.nih.gov/pubmed/2496145
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