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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:CEN Case Rep
Egile Nagusiak: Rossanti, Rini, Watanabe, Toshio, Nagano, China, Hara, Shigeo, Horinouchi, Tomoko, Yamamura, Tomohiko, Sakakibara, Nana, Ninchoji, Takeshi, Iijima, Kazumoto, Nozu, Kandai
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Singapore 2020
Gaiak:
Case Report
Sarrera elektronikoa: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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