| 000 | 01641 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250513195339.0 | ||
| 264 | 0 | _c20000124 | |
| 008 | 200001s 0 0 eng d | ||
| 022 | _a1059-7794 | ||
| 024 | 7 |
_a10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLópez-Bigas, N | |
| 245 | 0 | 0 |
_aSplice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. _h[electronic resource] |
| 260 |
_bHuman mutation _c1999 |
||
| 300 |
_a520-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAudiometry |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aCochlea _xabnormalities |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGoiter _xgenetics |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xcongenital |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Transport Proteins |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA Splicing _xgenetics |
| 650 | 0 | 4 | _aSulfate Transporters |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aRabionet, R | |
| 700 | 1 | _ade Cid, R | |
| 700 | 1 | _aGovea, N | |
| 700 | 1 | _aGasparini, P | |
| 700 | 1 | _aZelante, L | |
| 700 | 1 | _aArbonés, M L | |
| 700 | 1 | _aEstivill, X | |
| 773 | 0 |
_tHuman mutation _gvol. 14 _gno. 6 _gp. 520-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K _zAvailable from publisher's website |
| 999 |
_c10528211 _d10528211 |
||