000 | 01409 a2200421 4500 | ||
---|---|---|---|
005 | 20250514022214.0 | ||
264 | 0 | _c20020208 | |
008 | 200202s 0 0 dut d | ||
022 | _a0028-2162 | ||
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aCobben, J M | |
245 | 0 | 0 |
_a[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy]. _h[electronic resource] |
260 |
_bNederlands tijdschrift voor geneeskunde _cDec 2001 |
||
300 |
_a2525-7 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Review | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChromosomes, Human, Pair 5 |
650 | 0 | 4 | _aCyclic AMP Response Element-Binding Protein |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aGene Expression |
650 | 0 | 4 | _aGenetic Carrier Screening |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
650 | 0 | 4 | _aNetherlands |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPrenatal Diagnosis |
650 | 0 | 4 | _aRNA-Binding Proteins |
650 | 0 | 4 | _aSMN Complex Proteins |
650 | 0 | 4 |
_aSpinal Muscular Atrophies of Childhood _xgenetics |
650 | 0 | 4 | _aSurvival of Motor Neuron 1 Protein |
650 | 0 | 4 | _aSurvival of Motor Neuron 2 Protein |
700 | 1 | _ade Visser, M | |
700 | 1 | _aScheffer, H | |
773 | 0 |
_tNederlands tijdschrift voor geneeskunde _gvol. 145 _gno. 52 _gp. 2525-7 |
|
999 |
_c11704945 _d11704945 |