A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

BACKGROUND: Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the c...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Tsuji, Shoji, Yamashita, Miyoko, Unishi, Gen, Takewa, Reiko, Kimata, Takahisa, Isobe, Kiyoshi, Chiga, Motoko, Uchida, Shinichi, Kaneko, Kazunari
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3733749/
https://ncbi.nlm.nih.gov/pubmed/23902721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-166
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak