000			nab a22 7a 4500
999			_c16217 _d16217
003			PC16217
005			20210406113158.0
008			210201b2014 xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_92762 _aManzanares, J _eUnidad de Fibrosis Quística
245	0	0	_aExtensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. _h[artículo]
260			_bClinical Genetics, _c2014
300			_a86(1):91-5.
500			_aFormato Vancouver: Ramos MD, Trujillano D, Olivar R, Sotillo F, Ossowski S, Manzanares J et al. Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. Clin Genet. 2014 Jul;86(1):91-5.
501			_aPMID: 23837941
504			_aContiene 12 referencias
520			_aThe term cystic fibrosis (CF)-like disease is used to describe patients with a borderline sweat test and suggestive CF clinical features but without two CFTR(cystic fibrosis transmembrane conductance regulator) mutations. We have performed the extensive molecular analysis of four candidate genes (SCNN1A, SCNN1B, SCNN1G and SERPINA1) in a cohort of 10 uncharacterized patients with CF and CF-like disease. We have used whole-exome sequencing to characterize mutations in the CFTR gene and these four candidate genes. CFTR molecular analysis allowed a complete characterization of three of four CF patients. Candidate variants in SCNN1A, SCNN1B, SCNN1G and SERPINA1 in six patients with CF-like phenotypes were confirmed by Sanger sequencing and were further supported by in silico predictive analysis, pedigree studies, sweat test in other family members, and analysis in CF patients and healthy subjects. Our results suggest that CF-like disease probably results from complex genotypes in several genes in an oligogenic form, with rare variants interacting with environmental factors.
710			_91815 _aUnidad de Fibrosis Quística
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc16217.pdf _ySolicitar documento
942			_2ddc _cART _n0