| 000 | 01735 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250515192106.0 | ||
| 264 | 0 | _c20100311 | |
| 008 | 201003s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2008.065961 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuizing, M | |
| 245 | 0 | 0 |
_aClinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cDec 2009 |
||
| 300 |
_a803-10 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBlotting, Northern |
| 650 | 0 | 4 |
_aDNA _xchemistry |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 |
_aHermanski-Pudlak Syndrome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunohistochemistry |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMelanosomes _xgenetics |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aPederson, B | |
| 700 | 1 | _aHess, R A | |
| 700 | 1 | _aGriffin, A | |
| 700 | 1 | _aHelip-Wooley, A | |
| 700 | 1 | _aWestbroek, W | |
| 700 | 1 | _aDorward, H | |
| 700 | 1 | _aO'Brien, K J | |
| 700 | 1 | _aGolas, G | |
| 700 | 1 | _aTsilou, E | |
| 700 | 1 | _aWhite, J G | |
| 700 | 1 | _aGahl, W A | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 46 _gno. 12 _gp. 803-10 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2008.065961 _zAvailable from publisher's website |
| 999 |
_c19235197 _d19235197 |
||