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 |