| 000 | 01486 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515033327.0 | ||
| 264 | 0 | _c20061016 | |
| 008 | 200610s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9441 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWaanders, Esmé | |
| 245 | 0 | 0 |
_aExtensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. _h[electronic resource] |
| 260 |
_bHuman mutation _cAug 2006 |
||
| 300 |
_a830 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCalcium-Binding Proteins |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCysts _xdiagnosis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aGlucosidases |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 |
_aLiver Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Chaperones |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 | _aRNA-Binding Proteins |
| 700 | 1 | _ate Morsche, René H M | |
| 700 | 1 | _ade Man, Rob A | |
| 700 | 1 | _aJansen, Jan B M J | |
| 700 | 1 | _aDrenth, Joost P H | |
| 773 | 0 |
_tHuman mutation _gvol. 27 _gno. 8 _gp. 830 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9441 _zAvailable from publisher's website |
| 999 |
_c16427019 _d16427019 |
||