| 000 | 01341 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250511210423.0 | ||
| 264 | 0 | _c19910822 | |
| 008 | 199108s 0 0 eng d | ||
| 022 | _a0028-0836 | ||
| 024 | 7 |
_a10.1038/352337a0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDietz, H C | |
| 245 | 0 | 0 |
_aMarfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. _h[electronic resource] |
| 260 |
_bNature _cJul 1991 |
||
| 300 |
_a337-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aFibrillins |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMarfan Syndrome _xgenetics |
| 650 | 0 | 4 |
_aMicrofilament Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 700 | 1 | _aCutting, G R | |
| 700 | 1 | _aPyeritz, R E | |
| 700 | 1 | _aMaslen, C L | |
| 700 | 1 | _aSakai, L Y | |
| 700 | 1 | _aCorson, G M | |
| 700 | 1 | _aPuffenberger, E G | |
| 700 | 1 | _aHamosh, A | |
| 700 | 1 | _aNanthakumar, E J | |
| 700 | 1 | _aCurristin, S M | |
| 773 | 0 |
_tNature _gvol. 352 _gno. 6333 _gp. 337-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/352337a0 _zAvailable from publisher's website |
| 999 |
_c1858411 _d1858411 |
||