Mutation-in-Brief
An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2
キーワード:
pseudohypoaldosteronism type 1 (PHA1),
nuclear receptor subfamily 3 group C member 2 (NR3C2),
mineralocorticoid receptor (MR),
novel mutation
2020 年 29 巻 3 号 p. 127-130
詳細
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