| 000 | 01640 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516215012.0 | ||
| 264 | 0 | _c20150603 | |
| 008 | 201506s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddu253 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLechner, Judith | |
| 245 | 0 | 0 |
_aEnrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cOct 2014 |
||
| 300 |
_a5527-35 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aEhlers-Danlos Syndrome _xgenetics |
| 650 | 0 | 4 | _aEye Abnormalities |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aJoint Instability _xcongenital |
| 650 | 0 | 4 |
_aKeratoconus _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aSkin Abnormalities |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aPorter, Louise F | |
| 700 | 1 | _aRice, Aine | |
| 700 | 1 | _aVitart, Veronique | |
| 700 | 1 | _aArmstrong, David J | |
| 700 | 1 | _aSchorderet, Daniel F | |
| 700 | 1 | _aMunier, Francis L | |
| 700 | 1 | _aWright, Alan F | |
| 700 | 1 | _aInglehearn, Chris F | |
| 700 | 1 | _aBlack, Graeme C | |
| 700 | 1 | _aSimpson, David A | |
| 700 | 1 | _aManson, Forbes | |
| 700 | 1 | _aWilloughby, Colin E | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 23 _gno. 20 _gp. 5527-35 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddu253 _zAvailable from publisher's website |
| 999 |
_c23886407 _d23886407 |
||