| 000 | 01440 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250514040128.0 | ||
| 264 | 0 | _c20020920 | |
| 008 | 200209s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 024 | 7 |
_a10.1002/ajmg.10421 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShears, Deborah J | |
| 245 | 0 | 0 |
_aPseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cJun 2002 |
||
| 300 |
_a153-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aDNA _xchemistry |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aShort Stature Homeobox Protein |
| 700 | 1 | _aGuillen-Navarro, Encarna | |
| 700 | 1 | _aSempere-Miralles, Manuel | |
| 700 | 1 | _aDomingo-Jimenez, Rosario | |
| 700 | 1 | _aScambler, Peter J | |
| 700 | 1 | _aWinter, Robin M | |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 110 _gno. 2 _gp. 153-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.10421 _zAvailable from publisher's website |
| 999 |
_c12007357 _d12007357 |
||