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Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli

FRAS1 is mutated in some individuals with Fraser syndrome (FS) and the encoded protein is expressed in embryonic epidermal cells, localizing in their basement membrane (BM). Syndactyly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malformations are uncl...

詳細記述

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書誌詳細
主要な著者: Pitera, Jolanta E., Scambler, Peter J., Woolf, Adrian S.
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2638576/
https://ncbi.nlm.nih.gov/pubmed/18787044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn297
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