Publications:

The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: CHST6: 180delC

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.

Molecular Vision

Sultana, Afia A; Klintworth, Gordon K GK; Thonar, Eugene J-M A EJ; Vemuganti, Geeta K GK; Kannabiran, Chitra C

Publication Date: 2009

Variant appearance in text: CHST6: Phe60LeufsX10

PubMed Link: 19204788

Variant Present in the following documents:

• Main text
• mv-v15-319.pdf

View BVdb publication page