000 01655 a2200493 4500
005 20250514074142.0
264 0 _c20040316
008 200403s 0 0 eng d
022 _a1420-4096
024 7 _a10.1159/000071883
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLudwig, Michael
245 0 0 _aFour additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.
_h[electronic resource]
260 _bKidney & blood pressure research
_c2003
300 _a176-84 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAdult
650 0 4 _aAmino Acid Sequence
650 0 4 _aChloride Channels
_xgenetics
650 0 4 _aDNA
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDatabases, Genetic
650 0 4 _aExons
_xgenetics
650 0 4 _aFanconi Syndrome
_xgenetics
650 0 4 _aGenetic Diseases, X-Linked
_xgenetics
650 0 4 _aHumans
650 0 4 _aIntrons
_xgenetics
650 0 4 _aKidney
_xmetabolism
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aRNA, Messenger
_xbiosynthesis
650 0 4 _aSyndrome
700 1 _aWaldegger, Siegfried
700 1 _aNuutinen, Matti
700 1 _aBökenkamp, Arend
700 1 _aReissinger, Annette
700 1 _aSteckelbroeck, Stephan
700 1 _aUtsch, Boris
773 0 _tKidney & blood pressure research
_gvol. 26
_gno. 3
_gp. 176-84
856 4 0 _uhttps://doi.org/10.1159/000071883
_zAvailable from publisher's website
999 _c12662970
_d12662970