| 000 | 00958 a2200313 4500 | ||
|---|---|---|---|
| 005 | 20250515113132.0 | ||
| 264 | 0 | _c20080402 | |
| 008 | 200804s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMinucci, Angelo | |
| 245 | 0 | 0 |
_aNovel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome. _h[electronic resource] |
| 260 |
_bHuman genetics _cNov 2007 |
||
| 300 |
_a414 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aCollagen Type IV _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNephritis, Hereditary _xgenetics |
| 700 | 1 | _aCapoluongo, Ettore | |
| 700 | 1 | _aConcolino, Paola | |
| 700 | 1 | _aConcetta, Santonocito | |
| 700 | 1 | _aZuppi, Cecilia | |
| 700 | 1 | _aGiardina, Bruno | |
| 773 | 0 |
_tHuman genetics _gvol. 122 _gno. 3-4 _gp. 414 |
|
| 999 |
_c17851749 _d17851749 |
||