Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.
about
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronismAf17 deficiency increases sodium excretion and decreases blood pressureEpithelial Na+ channel subunit stoichiometryDeletion of α-subunit exon 11 of the epithelial Na+ channel reveals a regulatory moduleClinical features and molecular basis of pseudohypoaldosteronism type 1.Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit.Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
P2860
Q28246955-F7D84FF8-8C1B-4EBD-9780-D176087F56B4Q28590130-E70683DE-136D-4E7E-A3C0-EFB560BF0DF1Q30499923-37766359-AEA9-4057-BF1D-7429A5F21DDDQ37629183-B3A5676A-1B74-4816-9432-82B4FBB59FAEQ40095277-0AB17EDA-94EE-4AE9-914B-DCD98DD71B81Q42320196-D1534B4F-97EF-43D2-B947-059B82D63713Q44120931-7D730B95-3667-4E6C-B44C-1C4925464B28Q46960945-F6632EC4-3E95-4458-9A95-F8930F44E659
P2860
Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Compound heterozygous mutation ...... seudohypoaldosteronism type 1.
@en
type
label
Compound heterozygous mutation ...... seudohypoaldosteronism type 1.
@en
prefLabel
Compound heterozygous mutation ...... seudohypoaldosteronism type 1.
@en
P2093
P356
P1476
Compound heterozygous mutation ...... seudohypoaldosteronism type 1.
@en
P2093
P356
10.1210/JC.86.1.9
P407
P577
2001-01-01T00:00:00Z