| 000 | 01726 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517045800.0 | ||
| 264 | 0 | _c20151208 | |
| 008 | 201512s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2015.07.009 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJohnston, Jennifer J | |
| 245 | 0 | 0 |
_aA Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cSep 2015 |
||
| 300 |
_a465-74 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural | ||
| 650 | 0 | 4 |
_aAcro-Osteolysis _xgenetics |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
| 650 | 0 | 4 | _aHeLa Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPhosphorylation |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 |
_aProgeria _xgenetics |
| 650 | 0 | 4 |
_aReceptor, Platelet-Derived Growth Factor beta _xgenetics |
| 650 | 0 | 4 |
_aSignal Transduction _xgenetics |
| 650 | 0 | 4 | _aTime Factors |
| 700 | 1 | _aSanchez-Contreras, Monica Y | |
| 700 | 1 | _aKeppler-Noreuil, Kim M | |
| 700 | 1 | _aSapp, Julie | |
| 700 | 1 | _aCrenshaw, Molly | |
| 700 | 1 | _aFinch, NiCole A | |
| 700 | 1 | _aCormier-Daire, Valerie | |
| 700 | 1 | _aRademakers, Rosa | |
| 700 | 1 | _aSybert, Virginia P | |
| 700 | 1 | _aBiesecker, Leslie G | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 97 _gno. 3 _gp. 465-74 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2015.07.009 _zAvailable from publisher's website |
| 999 |
_c25174922 _d25174922 |
||