000			02022na a2200253 4500
003			PC6738
005			20210625062804.0
008			130622s2012 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9345 _aMartín Casanueva, Miguel Ángel _eBioquímica Clínica
100			_aRubio, Juan C. _92181 _eInstituto de Investigación i+12
245	0	0	_aPolymorphisms influencing muscle phenotypes in North-African and Spanish populations. _h[artículo]
260			_bAnnals of Human Biology, _c2012
300			_a39(2):166-9.
500			_aFormato Vancouver: Fernández-Santander A, Valveny N, Harich N, Kandil M, Luna F, Martín MÁ et al. Polymorphisms influencing muscle phenotypes in North-African and Spanish populations. Ann Hum Biol. 2012 Mar;39(2):166-9.
501			_aPMID: 22324844
504			_aContiene 21 referencias
520			_aThe purpose of this study was to determine the allelic and genotypic frequency distribution of the C34T mutation in the muscle isoform of the adenosine monophosphate deaminase 1 (AMPD1) gene and of the missense substitution K153R in the myostatin (GDF8) gene in one Spanish and two North African populations. METHOD: One sample of 98 individuals was genotyped from the South of Spain (Alpujarra) and two samples from Morocco (77 Berbers and 78 Arabs). RESULTS: The frequency of the AMPD1 C34T mutation was lower in Berbers (0.071) compared with the Alpujarra cohort (0.153, p = 0.018). The GDF8 K153R substitution showed little variability among the three cohorts. CONCLUSIONS: Studies with larger cohorts and other ethnic groups are needed to corroborate that there does not exist any major variability in the genotype distribution of genes associated with muscle phenotypes in the South-Eastern Mediterranean area.
710			_9446 _aServicio de Pediatría-Neonatología
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/6/pc6738.pdf _ySolicitar documento
942			_n0 _2ddc _cART
999			_c6738 _d6738