000 | 01452 a2200421 4500 | ||
---|---|---|---|
005 | 20250514031518.0 | ||
264 | 0 | _c20020627 | |
008 | 200206s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.9035 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aReiterová, J | |
245 | 0 | 0 |
_aFour novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. _h[electronic resource] |
260 |
_bHuman mutation _cMay 2002 |
||
300 |
_a573 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
650 | 0 | 4 | _aCzech Republic |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 |
_aFrameshift Mutation _xgenetics |
650 | 0 | 4 |
_aHeteroduplex Analysis _xmethods |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aMutation, Missense _xgenetics |
650 | 0 | 4 |
_aPolycystic Kidney, Autosomal Dominant _xgenetics |
650 | 0 | 4 |
_aPolymorphism, Genetic _xgenetics |
650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
650 | 0 | 4 | _aTRPP Cation Channels |
700 | 1 | _aStekrová, J | |
700 | 1 | _aPeters, D J M | |
700 | 1 | _aKapras, J | |
700 | 1 | _aKohoutová, M | |
700 | 1 | _aMerta, M | |
700 | 1 | _aZidovská, J | |
773 | 0 |
_tHuman mutation _gvol. 19 _gno. 5 _gp. 573 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9035 _zAvailable from publisher's website |
999 |
_c11869737 _d11869737 |