| 000 | 01622 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515100322.0 | ||
| 264 | 0 | _c20080812 | |
| 008 | 200808s 0 0 eng d | ||
| 022 | _a1093-5266 | ||
| 024 | 7 |
_a10.2350/07-07-0311.1 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFarez-Vidal, M Esther | |
| 245 | 0 | 0 |
_aA family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H. _h[electronic resource] |
| 260 |
_bPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society _c |
||
| 300 |
_a213-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aCystic Fibrosis _xgenetics |
| 650 | 0 | 4 |
_aCystic Fibrosis Transmembrane Conductance Regulator _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectrophoresis, Capillary |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 700 | 1 | _aGómez-Llorente, M Amelia | |
| 700 | 1 | _aGómez-Llorente, Carolina | |
| 700 | 1 | _aBlanco, Sonia | |
| 700 | 1 | _aCasas-Maldonado, Francisco | |
| 700 | 1 | _aCampoy, Cristina | |
| 700 | 1 | _aGómez-Capilla, José Antonio | |
| 773 | 0 |
_tPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society _gvol. 11 _gno. 3 _gp. 213-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.2350/07-07-0311.1 _zAvailable from publisher's website |
| 999 |
_c17591661 _d17591661 |
||