| 000 | 01367 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250513105232.0 | ||
| 264 | 0 | _c19970227 | |
| 008 | 199702s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.1996.tb02370.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWitt, M | |
| 245 | 0 | 0 |
_aA cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux. _h[electronic resource] |
| 260 |
_bClinical genetics _cSep 1996 |
||
| 300 |
_a149-51 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBronchitis _xgenetics |
| 650 | 0 | 4 |
_aCystic Fibrosis _xgenetics |
| 650 | 0 | 4 |
_aCystic Fibrosis Transmembrane Conductance Regulator _xgenetics |
| 650 | 0 | 4 |
_aExocrine Pancreatic Insufficiency _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGastroesophageal Reflux _xgenetics |
| 650 | 0 | 4 | _aGuanine |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aThymine |
| 700 | 1 | _aPogorzelski, A | |
| 700 | 1 | _aZebrak, J | |
| 700 | 1 | _aRutkiewicz, E | |
| 773 | 0 |
_tClinical genetics _gvol. 50 _gno. 3 _gp. 149-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.1996.tb02370.x _zAvailable from publisher's website |
| 999 |
_c8938423 _d8938423 |
||