A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

Dermal fibroblasts from a 13-yr-old boy with isolated skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Only one half of the secreted profibrillin was proteolytically processed to fibrillin outside the cell and deposited into the extracellular matrix. El...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Milewicz, D M, Grossfield, J, Cao, S N, Kielty, C, Covitz, W, Jewett, T
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1995
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC295860/
https://ncbi.nlm.nih.gov/pubmed/7738200
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