Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.
作者信息
Yamada N, Chikama T-I, Morishige N, Yanai R, Nishida T, Inui M, Seki K
出版信息
Br J Ophthalmol. 2005 Jun;89(6):771-3. doi: 10.1136/bjo.2004.056168.
Abstract
摘要
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本文引用的文献
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BIGH3 mutation spectrum in corneal dystrophies.角膜营养不良中的BIGH3突变谱。
Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54.
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Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation.纯合子和杂合子R124H BIG-H3突变导致的角膜营养不良患者接受光治疗性角膜切除术后的不同复发模式。
Am J Ophthalmol. 2001 Aug;132(2):255-7. doi: 10.1016/s0002-9394(01)00824-8.
3
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.
Cornea. 2001 Jul;20(5):525-9. doi: 10.1097/00003226-200107000-00017.
4
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.日本常染色体显性遗传性角膜营养不良与BIGH3基因突变的关联。
Am J Ophthalmol. 2000 Oct;130(4):516-7. doi: 10.1016/s0002-9394(00)00571-7.
5
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA.导致法国III型A晶格角膜营养不良的βig-h3基因的一种新突变（A546T）。
Am J Ophthalmol. 2000 Feb;129(2):248-51. doi: 10.1016/s0002-9394(99)00324-4.
6
Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients.5名日本患者患有角膜上皮素基因纯合R124H突变的严重型青少年角膜基质营养不良。
Br J Ophthalmol. 1998 Nov;82(11):1280-4. doi: 10.1136/bjo.82.11.1280.
7
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.
Hum Genet. 1998 Sep;103(3):286-9. doi: 10.1007/s004390050818.
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Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.角膜颗粒状营养不良伴角膜上皮素基因纯合突变。
Am J Ophthalmol. 1998 Aug;126(2):169-76. doi: 10.1016/s0002-9394(98)00075-0.
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Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.由纯合R124H角膜上皮素突变引起的严重角膜营养不良表型。
Invest Ophthalmol Vis Sci. 1998 Sep;39(10):1947-53.
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Homozygotic patient with betaig-h3 gene mutation in granular dystrophy.
Cornea. 1998 May;17(3):288-92.
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