000 01715 a2200481 4500
005 20250515093133.0
264 0 _c20071113
008 200711s 0 0 eng d
022 _a1549-4713
024 7 _a10.1016/j.ophtha.2007.07.029
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aZhao, Xinping C
245 0 0 _aSpontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
_h[electronic resource]
260 _bOphthalmology
_cNov 2007
300 _ae39-46 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAge of Onset
650 0 4 _aBowman Membrane
_xpathology
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCorneal Dystrophies, Hereditary
_xgenetics
650 0 4 _aCorneal Transplantation
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExtracellular Matrix Proteins
_xgenetics
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMicrosatellite Repeats
650 0 4 _aPedigree
650 0 4 _aPoint Mutation
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aRetrospective Studies
650 0 4 _aTransforming Growth Factor beta
_xgenetics
700 1 _aNakamura, Hisashi
700 1 _aSubramanyam, Sumitra
700 1 _aStock, Lee E
700 1 _aGillette, Thomas E
700 1 _aYoshikawa, Shunichi
700 1 _aMa, Xiaoping
700 1 _aYee, Richard W
773 0 _tOphthalmology
_gvol. 114
_gno. 11
_gp. e39-46
856 4 0 _uhttps://doi.org/10.1016/j.ophtha.2007.07.029
_zAvailable from publisher's website
999 _c17498844
_d17498844