| 000 | 01170 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250513085458.0 | ||
| 264 | 0 | _c19960403 | |
| 008 | 199604s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.32.11.919 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBienvenu, T | |
| 245 | 0 | 0 |
_aSevere cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cNov 1995 |
||
| 300 |
_a919 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Comment; Letter | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCystic Fibrosis _xgenetics |
| 650 | 0 | 4 |
_aCystic Fibrosis Transmembrane Conductance Regulator _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aBeldjord, C | |
| 700 | 1 | _aKaplan, J C | |
| 700 | 1 | _aHubert, D | |
| 700 | 1 | _aDusser, D | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 32 _gno. 11 _gp. 919 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.32.11.919 _zAvailable from publisher's website |
| 999 |
_c8591394 _d8591394 |
||