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Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.

We studied fibrillin synthesis in cultured fibroblasts from 11 members of a three-generation family with Marfan syndrome, caused by a large in-frame deletion in FBN1 (the fibrillin gene) leading to a loss of 366 bases in the corresponding fibrillin mRNA. Metabolic labelling with [35S]Met/Cys and SDS...

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Bibliografske podrobnosti
Main Authors: Raghunath, M, Kielty, C M, Kainulainen, K, Child, A, Peltonen, L, Steinmann, B
Format: Artigo
Jezik:Inglês
Izdano: 1994
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1137314/
https://ncbi.nlm.nih.gov/pubmed/7945217
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