Cargando…
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1
Autores principales: | Nishizaki, Yoshimi, Hiura, Makoto, Sato, Hidetoshi, Ogawa, Yohei, Saitoh, Akihiko, Nagasaki, Keisuke |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069542/ https://www.ncbi.nlm.nih.gov/pubmed/27780983 http://dx.doi.org/10.1297/cpe.25.135 |
Ejemplares similares
-
A novel NR3C2 mutation in a Japanese patient with the renal
form of pseudohypoaldosteronism type 1
por: Tsunogai, Toshiki, et al.
Publicado: (2016) -
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
por: Marduel, Marie, et al.
Publicado: (2010) -
H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
por: Nagasaki, Keisuke, et al.
Publicado: (2009) -
An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel
mutation of NR3C2
por: Goda, Takeshi, et al.
Publicado: (2020) -
A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
por: Wang, Binbin, et al.
Publicado: (2011)