| 000 | 01601 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514212207.0 | ||
| 264 | 0 | _c20050712 | |
| 008 | 200507s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5201268 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEggermann, Thomas | |
| 245 | 0 | 0 |
_aSomatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cMar 2005 |
||
| 300 |
_a309-13 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 5 _xgenetics |
| 650 | 0 | 4 |
_aCyclic AMP Response Element-Binding Protein _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 |
_aGenetic Carrier Screening _xmethods |
| 650 | 0 | 4 | _aGenetic Counseling |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aSMN Complex Proteins |
| 650 | 0 | 4 |
_aSpinal Muscular Atrophies of Childhood _xgenetics |
| 650 | 0 | 4 | _aSurvival of Motor Neuron 1 Protein |
| 700 | 1 | _aZerres, Klaus | |
| 700 | 1 | _aAnhuf, Dirk | |
| 700 | 1 | _aKotzot, Dieter | |
| 700 | 1 | _aFauth, Christine | |
| 700 | 1 | _aRudnik-Schöneborn, Sabine | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 13 _gno. 3 _gp. 309-13 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201268 _zAvailable from publisher's website |
| 999 |
_c15270745 _d15270745 |
||