000 00976 a2200325 4500
005 20250514183218.0
264 0 _c20040427
008 200404s 0 0 eng d
022 _a0340-6717
040 _aNLM
_beng
_cNLM
100 1 _aThomas, C P
245 0 0 _aGene symbol: SCNN1B. Disease: Pseudohypoaldosteronism, type 1.
_h[electronic resource]
260 _bHuman genetics
_cMar 2004
300 _a402 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aEpithelial Sodium Channels
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aPhenotype
650 0 4 _aPseudohypoaldosteronism
_xclassification
650 0 4 _aSequence Deletion
650 0 4 _aSodium Channels
_xgenetics
700 1 _aZhou, Jackie
700 1 _aLiu, Kang Z
700 1 _aMick, Verity E
700 1 _aMacLaughlin, Eithne
700 1 _aKnowles, Michael
773 0 _tHuman genetics
_gvol. 114
_gno. 4
_gp. 402
999 _c14762975
_d14762975