| 000 | 01472 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516035439.0 | ||
| 264 | 0 | _c20110920 | |
| 008 | 201109s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.34025 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShaheen, Ranad | |
| 245 | 0 | 0 |
_aMutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJun 2011 |
||
| 300 |
_a1448-52 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aArthrogryposis _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Components |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xgenetics |
| 650 | 0 | 4 | _aSaudi Arabia |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aTacrolimus Binding Proteins _xgenetics |
| 700 | 1 | _aAl-Owain, Mohammed | |
| 700 | 1 | _aFaqeih, Eissa | |
| 700 | 1 | _aAl-Hashmi, Nadia | |
| 700 | 1 | _aAwaji, Ali | |
| 700 | 1 | _aAl-Zayed, Zayed | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 155A _gno. 6 _gp. 1448-52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.34025 _zAvailable from publisher's website |
| 999 |
_c20830747 _d20830747 |
||