| 000 | 01489 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250515140059.0 | ||
| 264 | 0 | _c20090819 | |
| 008 | 200908s 0 0 eng d | ||
| 022 | _a1432-1076 | ||
| 024 | 7 |
_a10.1007/s00431-008-0839-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZaidi, Syed H E | |
| 245 | 0 | 0 |
_aA novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. _h[electronic resource] |
| 260 |
_bEuropean journal of pediatrics _cJul 2009 |
||
| 300 |
_a867-70 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aArteries _xabnormalities |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aConnective Tissue _xabnormalities |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGlucose Transport Proteins, Facilitative _xdeficiency |
| 650 | 0 | 4 |
_aHip Dislocation _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aStomach _xabnormalities |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aMeyer, Sascha | |
| 700 | 1 | _aPeltekova, Vanya D | |
| 700 | 1 | _aLindinger, Angelika | |
| 700 | 1 | _aTeebi, Ahmad S | |
| 700 | 1 | _aFaiyaz-Ul-Haque, Muhammad | |
| 773 | 0 |
_tEuropean journal of pediatrics _gvol. 168 _gno. 7 _gp. 867-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00431-008-0839-2 _zAvailable from publisher's website |
| 999 |
_c18285965 _d18285965 |
||