| 000 | 01306 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513182613.0 | ||
| 264 | 0 | _c19990608 | |
| 008 | 199906s 0 0 eng d | ||
| 022 | _a1434-5161 | ||
| 024 | 7 |
_a10.1007/s100380050146 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHoriuchi, T | |
| 245 | 0 | 0 |
_aA novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency. _h[electronic resource] |
| 260 |
_bJournal of human genetics _c1999 |
||
| 300 |
_a215-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aComplement C7 _xdeficiency |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSpain |
| 700 | 1 | _aFerrer, J M | |
| 700 | 1 | _aSerra, P | |
| 700 | 1 | _aMatamoros, N | |
| 700 | 1 | _aLópez-Trascasa, M | |
| 700 | 1 | _aHashimura, C | |
| 700 | 1 | _aNiho, Y | |
| 773 | 0 |
_tJournal of human genetics _gvol. 44 _gno. 3 _gp. 215-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s100380050146 _zAvailable from publisher's website |
| 999 |
_c10278489 _d10278489 |
||