| 000 | 02382 a2200745 4500 | ||
|---|---|---|---|
| 005 | 20250514074952.0 | ||
| 264 | 0 | _c20040415 | |
| 008 | 200404s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/ddg234 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMcLean, W H Irwin | |
| 245 | 0 | 0 |
_aAn unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cSep 2003 |
||
| 300 |
_a2395-409 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChromosomes, Human, Pair 18 |
| 650 | 0 | 4 | _aChronic Disease |
| 650 | 0 | 4 | _aCodon, Terminator |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 |
_aEpidermolysis Bullosa _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aFrance _xethnology |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 |
_aGranulation Tissue _xpathology |
| 650 | 0 | 4 | _aHaplotypes |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKeratinocytes _xmetabolism |
| 650 | 0 | 4 |
_aLaminin _xchemistry |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aProtein Biosynthesis |
| 650 | 0 | 4 |
_aProtein Isoforms _xchemistry |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aUnited Kingdom _xethnology |
| 700 | 1 | _aIrvine, Alan D | |
| 700 | 1 | _aHamill, Kevin J | |
| 700 | 1 | _aWhittock, Neil V | |
| 700 | 1 | _aColeman-Campbell, Carrie M | |
| 700 | 1 | _aMellerio, Jemima E | |
| 700 | 1 | _aAshton, Gabrielle S | |
| 700 | 1 | _aDopping-Hepenstal, Patricia J H | |
| 700 | 1 | _aEady, Robin A J | |
| 700 | 1 | _aJamil, Tanvir | |
| 700 | 1 | _aPhillips, Roderic J | |
| 700 | 1 | _aShabbir, S Ghulam | |
| 700 | 1 | _aHaroon, Tahir S | |
| 700 | 1 | _aKhurshid, Khawar | |
| 700 | 1 | _aMoore, Jonathan E | |
| 700 | 1 | _aPage, Brian | |
| 700 | 1 | _aDarling, Jonathan | |
| 700 | 1 | _aAtherton, David J | |
| 700 | 1 | _aVan Steensel, Maurice A M | |
| 700 | 1 | _aMunro, Colin S | |
| 700 | 1 | _aSmith, Frances J D | |
| 700 | 1 | _aMcGrath, John A | |
| 700 | 1 | _aPhillips, Rodney J | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 12 _gno. 18 _gp. 2395-409 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddg234 _zAvailable from publisher's website |
| 999 |
_c12688800 _d12688800 |
||