| 000 | 01479 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516125235.0 | ||
| 264 | 0 | _c20130812 | |
| 008 | 201308s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22260 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLaurie, Kate J | |
| 245 | 0 | 0 |
_aIdentification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family. _h[electronic resource] |
| 260 |
_bHuman mutation _cMar 2013 |
||
| 300 |
_a435-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBlotting, Western |
| 650 | 0 | 4 |
_aCataract _xcongenital |
| 650 | 0 | 4 |
_aCrystallins _xgenetics |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSouth Australia |
| 650 | 0 | 4 |
_aalpha-Crystallins _xgenetics |
| 700 | 1 | _aDave, Alpana | |
| 700 | 1 | _aStraga, Tania | |
| 700 | 1 | _aSouzeau, Emmanuelle | |
| 700 | 1 | _aChataway, Timothy | |
| 700 | 1 | _aSykes, Matthew J | |
| 700 | 1 | _aCasey, Theresa | |
| 700 | 1 | _aTeo, Theodosia | |
| 700 | 1 | _aPater, John | |
| 700 | 1 | _aCraig, Jamie E | |
| 700 | 1 | _aSharma, Shiwani | |
| 700 | 1 | _aBurdon, Kathryn P | |
| 773 | 0 |
_tHuman mutation _gvol. 34 _gno. 3 _gp. 435-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22260 _zAvailable from publisher's website |
| 999 |
_c22360589 _d22360589 |
||