| 000 | 01253 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250518090618.0 | ||
| 264 | 0 | _c20201217 | |
| 008 | 202012s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/s10038-020-0734-x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPastore, Stephen | |
| 245 | 0 | 0 |
_aA novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cMay 2020 |
||
| 300 |
_a493-496 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Clinical Trial; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 |
_aHereditary Sensory and Autonomic Neuropathies _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutagenesis, Insertional |
| 650 | 0 | 4 |
_aPain Insensitivity, Congenital _xgenetics |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 |
_aWNK Lysine-Deficient Protein Kinase 1 _xgenetics |
| 700 | 1 | _aHarripaul, Ricardo | |
| 700 | 1 | _aAzam, Matloob | |
| 700 | 1 | _aVincent, John B | |
| 773 | 0 |
_tJournal of human genetics _gvol. 65 _gno. 5 _gp. 493-496 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s10038-020-0734-x _zAvailable from publisher's website |
| 999 |
_c30701179 _d30701179 |
||