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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...

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Detalles Bibliográficos
Autores principales: Pitera, Jolanta E., Scambler, Peter J., Woolf, Adrian S.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638576/
https://www.ncbi.nlm.nih.gov/pubmed/18787044
http://dx.doi.org/10.1093/hmg/ddn297