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 |