Other Macular Dystrophies 2
Author:
Publisher
Springer Nature Singapore
Link
https://link.springer.com/content/pdf/10.1007/978-981-16-7337-5_14
Reference55 articles.
1. Sorsby A, Mason MEJ, Gardener N. A fundus dystrophy with unusual features (late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalised choroidal atrophy with massive pigment proliferation). Br J Ophthalmol. 1949;33(2):67.
2. Weber BH, Vogt G, Pruett RC, Stöhr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby’s fundus dystrophy. Nat Genet. 1994;8(4):352–6.
3. Felbor U, Stohr H, Amann T, Schonherr U, Weber BH. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby’s fundus dystrophy with unusual clinical features. Hum Mol Genet. 1995;4(12):2415–6. https://doi.org/10.1093/hmg/4.12.2415.
4. Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol. 2002;120(3):376–9. https://doi.org/10.1001/archopht.120.3.376.
5. Langton KP, Barker MD, McKie N. Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby’s fundus dystrophy mutation. J Biol Chem. 1998;273(27):16778–81. https://doi.org/10.1074/jbc.273.27.16778.
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