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Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

A panel of eight unrelated subjects with inherited type I protein S deficiency was screened for mutations in the PROS1 gene. In five subjects an abnormality was found but mutations were not detected in the remaining three subjects. Two subjects shared a G-->A transition at position +5 of the dono...

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Main Authors: Reitsma, P H, Ploos van Amstel, H K, Bertina, R M
Formato: Artigo
Idioma:Inglês
Publicado: 1994
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC293866/
https://ncbi.nlm.nih.gov/pubmed/8113388
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