Corpus ID: 10231836

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity

@article{Alfadhli2012NovelCG,
  title={Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity},
  author={S. Alfadhli and S. Abdelmoaty and Amal Al-Hajeri and A. Behbehani and F. Alkuraya},
  journal={Molecular Vision},
  year={2012},
  volume={18},
  pages={2931 - 2936}
}
Purpose To explore the disease locus and causative mutation for autosomal dominant congenital cataracts (ADCC) in a Kuwaiti family. There were seven affected and three unaffected subjects in the family. Methods Whole-genome linkage analysis was performed using Gene Chip Human Mapping 250 K Arrays to identify regions of linkage. Potential genes within this region were cloned and sequenced to identify the disease-causing mutation. Results The highest logarithm of odds score (1.5) region 2q34–36.1… Expand
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1 Department of Clinical Genetics, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The 6 Netherlands; bagchiudita89@gmail.com (U.B); s.micheal@amc.uva.nl (S.M) 7 2 Centre National de laExpand
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