| 000 | 01535 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250513033029.0 | ||
| 264 | 0 | _c19951215 | |
| 008 | 199512s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/4.8.1331 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTurco, A E | |
| 245 | 0 | 0 |
_aA novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cAug 1995 |
||
| 300 |
_a1331-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCloning, Molecular |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 |
_aDNA Primers _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aPolycystic Kidney, Autosomal Dominant _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 700 | 1 | _aRossetti, S | |
| 700 | 1 | _aBresin, E | |
| 700 | 1 | _aCorra, S | |
| 700 | 1 | _aGammaro, L | |
| 700 | 1 | _aMaschio, G | |
| 700 | 1 | _aPignatti, P F | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 4 _gno. 8 _gp. 1331-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/4.8.1331 _zAvailable from publisher's website |
| 999 |
_c7580813 _d7580813 |
||