Table 3 of Mukhopadhyay, Mol Vis 2010; 16:540-548.

Table 3. Mutations found in families 1–4.

Family Mutations Protein Reference
1 c.1143_1144 insC (homo) p.His384Pro fs8X [4]
2 c.201G>A (het) and c.491_492 insT (het) p.Trp67X and p.Asn167Gln fs34X Novel
3 c.492 delC (homo) p.Asn167Thr fs25X [4]
4 c.492 delC (het) and c.1622_1625 delTCTG (het) p.Asn167Thr fs25X and p.Val541Ala fs188X [4] and Novel

The compound heterozygous mutations found in family 2 and one of the compound heterozygous mutations in family 4 are novel.

Mukhopadhyay, Mol Vis 2010; 16:540-548. http://www.molvis.org/molvis/v16/a61

©2010 Molecular Vision http://www.molvis.org/molvis/

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