2024-03-28T20:19:39Z
http://repoint.unil.ch/oaiprovider/
oai:serval.unil.ch:BIB_9FF54298A017
2024-03-23T02:45:52Z
serval:BIB_9FF54298A017
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
10.1152/ajpendo.00066.2011
21653223
000294211500005
Dirlewanger
M.
author
Huser
D.
author
Zennaro
M.C.
author
Girardin
E.
author
Schild
L.
author
Schwitzgebel
V.M.
author
article
2011
American Journal of Physiology. Endocrinology and Metabolism
1522-1555
0193-1849
journal
301
3
E467-E473
Epithelial Sodium Channel/genetics
Female
Homozygote
Humans
Infant, Newborn
Infant, Premature
Male
Mutation, Missense
Pseudohypoaldosteronism/genetics
eng
60_published