| 000 | 01568 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515223031.0 | ||
| 264 | 0 | _c20110222 | |
| 008 | 201102s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2010.01424.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJaakkola, E | |
| 245 | 0 | 0 |
_aERCC6 founder mutation identified in Finnish patients with COFS syndrome. _h[electronic resource] |
| 260 |
_bClinical genetics _cDec 2010 |
||
| 300 |
_a541-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCataract _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCockayne Syndrome _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDNA Helicases _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA Repair Enzymes _xgenetics |
| 650 | 0 | 4 | _aFinland |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoly-ADP-Ribose Binding Proteins |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aMustonen, A | |
| 700 | 1 | _aOlsen, P | |
| 700 | 1 | _aMiettinen, S | |
| 700 | 1 | _aSavuoja, T | |
| 700 | 1 | _aRaams, A | |
| 700 | 1 | _aJaspers, N G J | |
| 700 | 1 | _aShao, H | |
| 700 | 1 | _aWu, B L | |
| 700 | 1 | _aIgnatius, J | |
| 773 | 0 |
_tClinical genetics _gvol. 78 _gno. 6 _gp. 541-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2010.01424.x _zAvailable from publisher's website |
| 999 |
_c19811574 _d19811574 |
||