A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

BACKGROUND: There have been still few case reports of pseudohypoaldosteronism type II (PHA2), also known as Gordon's syndrome, genetically diagnosed, and this is the first report of familial PHA2 case in Japan with a novel D564N mutation in WNK4. METHODS: A 29‐year‐old woman was admitted to our...

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Publicado no:Mol Genet Genomic Med
Main Authors: Sakoh, Takashi, Sekine, Akinari, Mori, Takayasu, Mizuno, Hiroki, Kawada, Masahiro, Hiramatsu, Rikako, Hasegawa, Eiko, Hayami, Noriko, Yamanouchi, Masayuki, Suwabe, Tatsuya, Sawa, Naoki, Ubara, Yoshifumi, Fujimaru, Takuya, Sohara, Eisei, Shinichi, Uchida, Hoshino, Junichi, Takaichi, Kenmei
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565545/
https://ncbi.nlm.nih.gov/pubmed/31044551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.705
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