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