| 000 | 01869 a2200577 4500 | ||
|---|---|---|---|
| 005 | 20250514000008.0 | ||
| 264 | 0 | _c20011018 | |
| 008 | 200110s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.38.5.e13 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMoreno-Pelayo, M A | |
| 245 | 0 | 0 |
_aA cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMay 2001 |
||
| 300 |
_aE13 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCysteine _xgenetics |
| 650 | 0 | 4 |
_aDeafness _xgenetics |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xchemistry |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGPI-Linked Proteins |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
| 650 | 0 | 4 |
_aHaplotypes _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xchemistry |
| 650 | 0 | 4 |
_aMicrosatellite Repeats _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSpain |
| 650 | 0 | 4 |
_aZona Pellucida _xmetabolism |
| 700 | 1 | _adel Castillo, I | |
| 700 | 1 | _aVillamar, M | |
| 700 | 1 | _aRomero, L | |
| 700 | 1 | _aHernández-Calvín, F J | |
| 700 | 1 | _aHerraiz, C | |
| 700 | 1 | _aBarberá, R | |
| 700 | 1 | _aNavas, C | |
| 700 | 1 | _aMoreno, F | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 38 _gno. 5 _gp. E13 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.38.5.e13 _zAvailable from publisher's website |
| 999 |
_c11267566 _d11267566 |
||