Gene: [16p12/SCNN1B] sodium channel, nonvoltage-gated 1 beta; pseudohypoaldosteronism, type I (autosomal dominant; SCNN1A deficiency; MIM:177735); pseudohypoaldosteronism, type I (autosomal recessive; persian-jewish type; SCNN1B deficiency; MIM:264350); pseudoaldosteronism (Liddle syndrome; SCNN1B deficiency; MIM:177200);
REF | PAT,MUT
"Chang SS &: Nature Genet, 12, 248-253, 1996 PAT,MUT "Hansson JH &: PNAS, 92, 11495-11499, 1995 PAT,MUT "Shimkets RA &: Cell, 79, 407-414, 1994 PAT,MUT "Tamura H &: J Clin Invest, 97, 1780-1784, 1996 CLO,SEQ,LOC "Voilley N &: Genomics, 28, 560-565, 1995 |
SWI | SWISSPROT: P51168 |
KEY | neu, sign, mem, myo, ion |
CLA | coding, basic |
LOC | 16 p12.2-.1 |
MIM | MIM: 600760 |
Смотрите также:
