000 01739 a2200493 4500
005 20250518000402.0
264 0 _c20190424
008 201904s 0 0 eng d
022 _a1573-4978
024 7 _a10.1007/s11033-018-4361-y
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMota, Laís Ribeiro
245 0 0 _aDescription of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.
_h[electronic resource]
260 _bMolecular biology reports
_cDec 2018
300 _a2045-2051 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAlleles
650 0 4 _aBrazil
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCystic Fibrosis
_xgenetics
650 0 4 _aCystic Fibrosis Transmembrane Conductance Regulator
_xgenetics
650 0 4 _aFemale
650 0 4 _aGene Frequency
_xgenetics
650 0 4 _aGenetic Heterogeneity
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aGenetic Testing
650 0 4 _aGenotype
650 0 4 _aHigh-Throughput Nucleotide Sequencing
_xmethods
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
700 1 _ade Melo Filho, Valmir Machado
700 1 _ade Castro, Lorena Lemos
700 1 _aGarcia, Daniel Fantozzi
700 1 _aTerse-Ramos, Regina
700 1 _aToralles, Maria Betânia Pereira
700 1 _ade Lima, Renata Lúcia Leite Ferreira
700 1 _aSouza, Edna Lúcia
773 0 _tMolecular biology reports
_gvol. 45
_gno. 6
_gp. 2045-2051
856 4 0 _uhttps://doi.org/10.1007/s11033-018-4361-y
_zAvailable from publisher's website
999 _c28852644
_d28852644