000 | 01267 a2200361 4500 | ||
---|---|---|---|
005 | 20250515074503.0 | ||
264 | 0 | _c20070911 | |
008 | 200709s 0 0 eng d | ||
022 | _a0007-1161 | ||
024 | 7 |
_a10.1136/bjo.2006.103283 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHilton, E N | |
245 | 0 | 0 |
_aDe novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. _h[electronic resource] |
260 |
_bThe British journal of ophthalmology _cAug 2007 |
||
300 |
_a1083-4 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 |
_aCorneal Dystrophies, Hereditary _xgenetics |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMutation, Missense _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aTransforming Growth Factor beta _xgenetics |
700 | 1 | _aBlack, G C M | |
700 | 1 | _aManson, F D C | |
700 | 1 | _aSchorderet, D F | |
700 | 1 | _aMunier, F L | |
773 | 0 |
_tThe British journal of ophthalmology _gvol. 91 _gno. 8 _gp. 1083-4 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/bjo.2006.103283 _zAvailable from publisher's website |
999 |
_c17173157 _d17173157 |