Cysteine Substitutions in Epidermal Growth Factor-Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes.
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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年份:
1999
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