000 | 01334na a2200253 4500 | ||
---|---|---|---|
003 | H12O | ||
005 | 20210625062810.0 | ||
008 | 130622s2012 xxx||||| |||| 00| 0 eng d | ||
040 | _cH12O | ||
041 | _aspa | ||
100 |
_aEsteban Pérez, Jesús _92075 _eNeurología |
||
100 |
_aGarcía Redondo, Alberto _91899 _eInstituto de Investigación i+12 |
||
245 | 0 | 0 |
_aMutación SOD1-N19S en una familia de esclerosis lateral amiotrófica. _h[artículo] |
260 |
_bNeurología, _c2012 |
||
300 | _a27(1):11-5. | ||
500 | _aFormato Vancouver: Vela A, Galán L, Valencia C, Torre P de L, Cuadrado ML, Esteban J,et al. Mutación SOD1-N19S en una familia de esclerosis lateral amiotrófica. Neurologia. 2012 Jan;27(1):11-5. | ||
501 | _aPMID: 21549454 | ||
504 | _aContiene 31 referencias | ||
520 | _aN19S mutation is produced by substitution in the 139 position of SOD1 and was described by Mayeux in a patient with amyotrophic lateral sclerosis (ALS). He suggested that it did not have a causal effect as it was found in asymptomatic and sporadic cases. Other authors in later articles did not agree. | ||
710 |
_9267 _aServicio de Neurología-Neurofisiología |
||
710 |
_9625 _aInstituto de Investigación imas12 |
||
856 |
_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/9/pc9912.pdf _ySolicitar documento |
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942 |
_n0 _2ddc _cART |
||
999 |
_c9912 _d9912 |