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Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.

We have found abnormal fibrillin microfibrils isolated from tissues and cell cultures from two cousins with Marfan syndrome whose major clinical abnormality is bilateral ectopia lentis, but who also have skeletal involvement but no cardiovascular defects. Ultrastructural analysis of ciliary zonules...

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Main Authors: Kielty, C M, Davies, S J, Phillips, J E, Jones, C J, Shuttleworth, C A, Charles, S J
格式: Artigo
語言:Inglês
出版: 1995
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050170/
https://ncbi.nlm.nih.gov/pubmed/7897619
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