000 01293 a2200409 4500
005 20250513031555.0
264 0 _c19950425
008 199504s 0 0 eng d
022 _a0001-5652
024 7 _a10.1159/000154255
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBienvenu, T
245 0 0 _aIdentification of a novel missense mutation G239R in exon 6a of the CFTR gene.
_h[electronic resource]
260 _bHuman heredity
_c
300 _a53-4 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAged
650 0 4 _aAged, 80 and over
650 0 4 _aBase Sequence
650 0 4 _aCystic Fibrosis
_xgenetics
650 0 4 _aCystic Fibrosis Transmembrane Conductance Regulator
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aMembrane Proteins
_xgenetics
650 0 4 _aMolecular Sequence Data
650 0 4 _aPoint Mutation
700 1 _aCazeneuve, C
700 1 _aFajac, I
700 1 _aDusser, D
700 1 _aHubert, D
700 1 _aKaplan, J C
700 1 _aBeldjord, C
773 0 _tHuman heredity
_gvol. 45
_gno. 1
_gp. 53-4
856 4 0 _uhttps://doi.org/10.1159/000154255
_zAvailable from publisher's website
999 _c7534211
_d7534211