| 000 | 01832 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250515073927.0 | ||
| 264 | 0 | _c20071101 | |
| 008 | 200711s 0 0 eng d | ||
| 022 | _a0171-967X | ||
| 024 | 7 |
_a10.1007/s00223-007-9043-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCouto, Ana R | |
| 245 | 0 | 0 |
_aA novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. _h[electronic resource] |
| 260 |
_bCalcified tissue international _cAug 2007 |
||
| 300 |
_a81-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAzores |
| 650 | 0 | 4 |
_aBase Sequence _xgenetics |
| 650 | 0 | 4 |
_aBone and Bones _xdiagnostic imaging |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 |
_aDNA _xblood |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Markers _xgenetics |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIreland |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMelorheostosis _xgenetics |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 |
_aOsteopoikilosis _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aRadiography |
| 700 | 1 | _aBruges-Armas, Jacome | |
| 700 | 1 | _aPeach, Chris A | |
| 700 | 1 | _aChapman, Kay | |
| 700 | 1 | _aBrown, Matthew A | |
| 700 | 1 | _aWordsworth, B Paul | |
| 700 | 1 | _aZhang, Yun | |
| 773 | 0 |
_tCalcified tissue international _gvol. 81 _gno. 2 _gp. 81-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00223-007-9043-z _zAvailable from publisher's website |
| 999 |
_c17157801 _d17157801 |
||