Erratum: Molecular and structural analysis of genetic variations in congenital cataract
نویسندگان
چکیده
Manoj Kumar,1 Tushar Agarwal,2 Punit Kaur,3 Manoj Kumar,3 Sudarshan Khokhar,2 Rima Dada1 Affiliations: 1Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India 2Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India 3Department of Biophysics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India Molecular Vision 2014; 20:1160-1160 Received 9 May 2014 | Accepted 26 July 2014 | Published 6 August 2014 © 2014 Molecular Vision
منابع مشابه
Molecular and structural analysis of genetic variations in congenital cataract
OBJECTIVE To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs...
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PURPOSE To screen α-crystallin (CRYAB), γ-crystallin (CRYGC and CRYGD), and Connexin 50 (Cx-50 or GJA8) genes in congenital cataract patients and controls. METHODS Thirty clinically diagnosed congenital cataract cases below 3 years of age from northern India, presenting at Dr. R. P. Centre for Ophthalmic Sciences (AIIMS, New Delhi, India) were enrolled in this study. Genomic DNA was extracted...
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Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births. Approximately fifty percent of all congenital cataract cases may have a genetic cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the m...
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PURPOSE To identify the genetic lesions for congenital coralliform cataract. METHODS Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screened by two-point linkage analysis with gene based single nucleotide polymorphisms and microsatellit...
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