FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child

The identification of monogenic causes in patients with proteinuria has revealed that the encoded proteins functionally participate in distinct cellular tasks and signaling pathways in the slit diaphragms of the glomerular basement membrane. FAT1 is a member of a small family of vertebrate-cadherin-...

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Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Rossanti, Rini, Watanabe, Toshio, Nagano, China, Hara, Shigeo, Horinouchi, Tomoko, Yamamura, Tomohiko, Sakakibara, Nana, Ninchoji, Takeshi, Iijima, Kazumoto, Nozu, Kandai
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Singapore 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7829294/
https://ncbi.nlm.nih.gov/pubmed/32902815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00529-y
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