| 000 | 01509 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250514220046.0 | ||
| 264 | 0 | _c20050401 | |
| 008 | 200504s 0 0 eng d | ||
| 022 | _a0003-9942 | ||
| 024 | 7 |
_a10.1001/archneur.62.2.306 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEzquerra, Mario | |
| 245 | 0 | 0 |
_aA novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. _h[electronic resource] |
| 260 |
_bArchives of neurology _cFeb 2005 |
||
| 300 |
_a306-8 p. _bdigital |
||
| 500 | _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aDeafness _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aMitochondrial Precursor Protein Import Complex Proteins |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRNA, Messenger _xbiosynthesis |
| 650 | 0 | 4 |
_aReverse Transcriptase Polymerase Chain Reaction _xmethods |
| 700 | 1 | _aCampdelacreu, Jaume | |
| 700 | 1 | _aMuñoz, Esteban | |
| 700 | 1 | _aTolosa, Eduardo | |
| 700 | 1 | _aMartí, María J | |
| 773 | 0 |
_tArchives of neurology _gvol. 62 _gno. 2 _gp. 306-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1001/archneur.62.2.306 _zAvailable from publisher's website |
| 999 |
_c15386736 _d15386736 |
||