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

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