000 02126 a2200697 4500
005 20250514014833.0
264 0 _c20011207
008 200112s 0 0 eng d
022 _a1061-4036
024 7 _a10.1038/ng752
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBirkenhäger, R
245 0 0 _aMutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
_h[electronic resource]
260 _bNature genetics
_cNov 2001
300 _a310-4 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aBartter Syndrome
_xcomplications
650 0 4 _aChloride Channels
650 0 4 _aChromosomes, Human, Pair 1
_xgenetics
650 0 4 _aCloning, Molecular
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aGene Expression Profiling
650 0 4 _aHaplotypes
_xgenetics
650 0 4 _aHearing Loss, Sensorineural
_xcomplications
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization
650 0 4 _aKidney
_xmetabolism
650 0 4 _aMale
650 0 4 _aMembrane Proteins
_xgenetics
650 0 4 _aMice
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
_xgenetics
650 0 4 _aPhysical Chromosome Mapping
650 0 4 _aPolymorphism, Single-Stranded Conformational
650 0 4 _aPrenatal Diagnosis
650 0 4 _aRNA, Messenger
_xgenetics
650 0 4 _aRenal Insufficiency
_xcomplications
700 1 _aOtto, E
700 1 _aSchürmann, M J
700 1 _aVollmer, M
700 1 _aRuf, E M
700 1 _aMaier-Lutz, I
700 1 _aBeekmann, F
700 1 _aFekete, A
700 1 _aOmran, H
700 1 _aFeldmann, D
700 1 _aMilford, D V
700 1 _aJeck, N
700 1 _aKonrad, M
700 1 _aLandau, D
700 1 _aKnoers, N V
700 1 _aAntignac, C
700 1 _aSudbrak, R
700 1 _aKispert, A
700 1 _aHildebrandt, F
773 0 _tNature genetics
_gvol. 29
_gno. 3
_gp. 310-4
856 4 0 _uhttps://doi.org/10.1038/ng752
_zAvailable from publisher's website
999 _c11604502
_d11604502