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