| 000 | 01518 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250518055911.0 | ||
| 264 | 0 | _c20200622 | |
| 008 | 202006s 0 0 eng d | ||
| 022 | _a2324-9269 | ||
| 024 | 7 |
_a10.1002/mgg3.943 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCozijnsen, Luc | |
| 245 | 0 | 0 |
_aPathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome. _h[electronic resource] |
| 260 |
_bMolecular genetics & genomic medicine _c10 2019 |
||
| 300 |
_ae00943 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aActins _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCell Transdifferentiation |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xcytology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLoeys-Dietz Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMyosin Heavy Chains _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aReceptor, Transforming Growth Factor-beta Type I _xgenetics |
| 700 | 1 | _aPlomp, Astrid S | |
| 700 | 1 | _aPost, Jan G | |
| 700 | 1 | _aPals, Gerard | |
| 700 | 1 | _aBogunovic, Natalija | |
| 700 | 1 | _aYeung, Kak K | |
| 700 | 1 | _aNiessen, Hans W M | |
| 700 | 1 | _aGoumans, Marie-José T H | |
| 700 | 1 | _aBarge-Schaapveld, Daniela Q C M | |
| 700 | 1 | _aMicha, Dimitra | |
| 773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 7 _gno. 10 _gp. e00943 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.943 _zAvailable from publisher's website |
| 999 |
_c30067283 _d30067283 |
||