000 01362 a2200397 4500
005 20250514221122.0
264 0 _c20050712
008 200507s 0 0 eng d
022 _a0340-6717
024 7 _a10.1007/s00439-004-1246-z
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aClain, Jérôme
245 0 0 _aA neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
_h[electronic resource]
260 _bHuman genetics
_cMay 2005
300 _a454-60 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlleles
650 0 4 _aChloride Channels
_xmetabolism
650 0 4 _aCystic Fibrosis
_xgenetics
650 0 4 _aCystic Fibrosis Transmembrane Conductance Regulator
_xgenetics
650 0 4 _aGenes, Recessive
650 0 4 _aGenetic Variation
650 0 4 _aHeLa Cells
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Genetic
700 1 _aLehmann-Che, Jacqueline
700 1 _aGirodon, Emmanuelle
700 1 _aLipecka, Joanna
700 1 _aEdelman, Aleksander
700 1 _aGoossens, Michel
700 1 _aFanen, Pascale
773 0 _tHuman genetics
_gvol. 116
_gno. 6
_gp. 454-60
856 4 0 _uhttps://doi.org/10.1007/s00439-004-1246-z
_zAvailable from publisher's website
999 _c15418408
_d15418408