000 | 01579 a2200481 4500 | ||
---|---|---|---|
005 | 20250516232025.0 | ||
264 | 0 | _c20150610 | |
008 | 201506s 0 0 eng d | ||
022 | _a1873-2763 | ||
024 | 7 |
_a10.1016/j.bone.2014.08.014 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGannagé-Yared, Marie-Hélène | |
245 | 0 | 0 |
_aExome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. _h[electronic resource] |
260 |
_bBone _cNov 2014 |
||
300 |
_a142-5 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aExome _xgenetics |
650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFibroblast Growth Factor-23 |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aOsteochondrodysplasias _xblood |
650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
650 | 0 | 4 | _aRadiography |
700 | 1 | _aMakrythanasis, Periklis | |
700 | 1 | _aChouery, Eliane | |
700 | 1 | _aSobacchi, Cristina | |
700 | 1 | _aMehawej, Cybel | |
700 | 1 | _aSantoni, Federico A | |
700 | 1 | _aGuipponi, Michel | |
700 | 1 | _aAntonarakis, Stylianos E | |
700 | 1 | _aHamamy, Hanan | |
700 | 1 | _aMégarbané, André | |
773 | 0 |
_tBone _gvol. 68 _gp. 142-5 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.bone.2014.08.014 _zAvailable from publisher's website |
999 |
_c24152169 _d24152169 |