Učitavanje...

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.

The Marfan syndrome (MFS) is a connective tissue disorder inherited as an autosomal dominant trait and caused by mutations in the gene encoding fibrillin, a 350-kD glycoprotein that multimerizes to form extracellular microfibrils. It has been unclear whether disease results from a relative deficienc...

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Bibliografski detalji
Glavni autori: Eldadah, Z A, Brenn, T, Furthmayr, H, Dietz, H C
Format: Artigo
Jezik:Inglês
Izdano: 1995
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC295574/
https://ncbi.nlm.nih.gov/pubmed/7860770
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