| 000 | 01201 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250517010638.0 | ||
| 264 | 0 | _c20150616 | |
| 008 | 201506s 0 0 eng d | ||
| 022 | _a1469-1809 | ||
| 024 | 7 |
_a10.1111/ahg.12094 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRaza, Syed Irfan | |
| 245 | 0 | 0 |
_aA novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1. _h[electronic resource] |
| 260 |
_bAnnals of human genetics _cMar 2015 |
||
| 300 |
_a92-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCell Adhesion Molecules _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEctodermal Dysplasia _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 |
_aSyndactyly _xgenetics |
| 700 | 1 | _aNasser Dar, Rashid | |
| 700 | 1 | _aShah, Anwar Ali | |
| 700 | 1 | _aAhmad, Wasim | |
| 773 | 0 |
_tAnnals of human genetics _gvol. 79 _gno. 2 _gp. 92-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/ahg.12094 _zAvailable from publisher's website |
| 999 |
_c24477580 _d24477580 |
||