| 000 | 01823 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515162908.0 | ||
| 264 | 0 | _c20100203 | |
| 008 | 201002s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/jhg.2009.21 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAnwar, Saima | |
| 245 | 0 | 0 |
_aSLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cMay 2009 |
||
| 300 |
_a266-70 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 7 _xgenetics |
| 650 | 0 | 4 |
_aDeafness _xcomplications |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aHaplotypes _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xchemistry |
| 650 | 0 | 4 |
_aMicrosatellite Repeats _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aPakistan _xethnology |
| 650 | 0 | 4 | _aPhysical Chromosome Mapping |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSulfate Transporters |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aRiazuddin, Saima | |
| 700 | 1 | _aAhmed, Zubair M | |
| 700 | 1 | _aTasneem, Saba | |
| 700 | 1 | _aKhan, Shahid Y | |
| 700 | 1 | _aGriffith, Andrew J | |
| 700 | 1 | _aFriedman, Thomas B | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 773 | 0 |
_tJournal of human genetics _gvol. 54 _gno. 5 _gp. 266-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/jhg.2009.21 _zAvailable from publisher's website |
| 999 |
_c18726346 _d18726346 |
||