Abstract | PURPOSE: 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. METHODS: RESULTS: CONCLUSIONS: Hematologic biomarkers may simplify the search for the underlying molecular defect in families with congenital cataract.
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Authors | O Wussuki-Lior, A Abu-Horowitz, I Netzer, Z Almer, Y Morad, Y Goldich, V Yahalom, El Pras, Er Pras |
Journal | Molecular vision
(Mol Vis)
Vol. 17
Pg. 1011-5
(Apr 24 2011)
ISSN: 1090-0535 [Electronic] United States |
PMID | 21541272
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- Blood Group Antigens
- FTL protein, human
- Apoferritins
- N-acetylglucosaminyltransferase IGnT
- N-Acetylglucosaminyltransferases
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Topics |
- Adult
- Apoferritins
(blood, genetics)
- Biomarkers
(blood)
- Blood Group Antigens
(analysis, genetics)
- Cataract
(blood, complications, congenital, genetics, metabolism, pathology)
- Child
- Consanguinity
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Genetic Predisposition to Disease
- Humans
- Iron Metabolism Disorders
(complications, congenital, genetics, metabolism)
- Israel
- Lens, Crystalline
(metabolism, pathology)
- Male
- Mutation
- N-Acetylglucosaminyltransferases
(blood, genetics)
- Pedigree
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