Publications:

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Molecular Vision

Kodaganur, Srinivas Gopinath SG; Kapoor, Saketh S; Veerappa, Avinash M AM; Tontanahal, Sagar Jagannath SJ; Sarda, Astha A; Yathish, S S; Prakash, D Ravi DR; Kumar, Arun A

Publication Date: 2013

Variant appearance in text: CHED2: 2423_2454del

PubMed Link: 23922488

Variant Present in the following documents:

• Main text
• mv-v19-1694.pdf

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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: SLC4A11: 2423_2454del

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Journal Of Medical Genetics

Desir, Julie J; Moya, Graciela G; Reish, Orit O; Van Regemorter, Nicole N; Deconinck, Hilde H; David, Karen L KL; Meire, Françoise M FM; Abramowicz, Marc J MJ

Publication Date: 2007-05

Variant appearance in text: SLC4A11: 2423_2454del

PubMed Link: 17220209

Variant Present in the following documents:

• Main text

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