A novel missense mutation in the gene for gap-junction protein α3 (GJA3) associated with autosomal dominant ╜nuclear punctate╚ cataracts linked to chromosome 13q
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چکیده
A novel missense mutation in the gene for gap-junction protein α3 (GJA3) associated with autosomal dominant " nuclear punctate " cataracts linked to chromosome 13qA novel missense mutation in the gene for gap-junction protein α3 (GJA3) associated with autosomal dominant " nuclear punctate " cataracts linked to chromosome 13q.
منابع مشابه
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
PURPOSE Autosomal dominant cataracts are a clinically and genetically heterogeneous eye-lens disorder that usually present in childhood with symptoms of impaired vision. The purpose of this study was to map and identify the mutation underlying autosomal dominant nuclear punctate cataracts segregating in a six generation Caucasian pedigree. METHODS Genomic DNA was prepared from blood leucocyte...
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PURPOSE To map and identify the genetic defect underlying autosomal dominant cataract segregating in a 5-generation Caucasian American family. METHODS Genomic DNA was prepared from blood leukocytes, genotyping was performed using microsatellite markers, and logarithm of the odds (LOD) scores were calculated using the LINKAGE programs. Mutation profiling was performed using direct exon cycle-s...
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Congenital cataracts are a significant cause of visual impairment in childhood. They have a high incidence and are a significant cause of vision loss world wide causing approximately one tenth of childhood blindness [1]. Roughly 50% of congenital cataracts are hereditary and family studies have revealed that approximately 30% of children with bilateral isolated congenital cataract had a genetic...
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PURPOSE To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). METHODS One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genetic linkage analysis was performed on the known genetic loci for ADC...
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