Cysteine Substitutions in Epidermal Growth Factor-Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes.

来自 EBSCO

阅读量:

27

作者:

SchrijverI.LiuW.BrennT.FurthmayrH.FranckeU.

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摘要:

Examines the effect of cyestein substitutions in epidermal growth factor-like domains of fibrillin-1 (FBN). Influence of disulfide bonds of cyestein substitution on Marfan syndrome; Application of mRNA assay for determining mutation in FBN1 transcripts; Performance of qualitative pulse-chase analysis of fibrillin protein.

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被引量:

213

年份:

1999

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