Gentaur Pub

#21541272   2011/04/24 To Up

Hematologic biomarkers in childhood cataracts.

To date, more than thirty nine genetic loci have been associated with congenital cataracts. Despite this progress, current diagnostic techniques are insufficient for unraveling the underlying genetic defect in sporadic patients and small families. In the present manuscript we demonstrate the contribution of routine laboratory tests in the search for genetic defects of childhood cataracts.
O Wussuki-Lior, A Abu-Horowitz, I Netzer, Z Almer, Y Morad, Y Goldich, V Yahalom, El Pras, Er Pras

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#15161861   // To Up

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

To identify the genetic defect associated with autosomal recessive congenital cataract in four Arab families from Israel.
Eran Pras, Judith Raz, Vered Yahalom, Moshe Frydman, Hanna J Garzozi, Elon Pras, J Fielding Hejtmancik

2123 related Products with: A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

1 mg200ul2.5 mg100ug Lyophilized50 ug10 mg50 ug100 mg50 ug100 mg250 mg

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