A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families. Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood...

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Veröffentlicht in:	PloS one 2016-06, Vol.11 (6), p.e0157005-e0157005
Hauptverfasser:	Jiao, Xiaodong, Kabir, Firoz, Irum, Bushra, Khan, Arif O, Wang, Qiwei, Li, David, Khan, Asma A, Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J Fielding, Riazuddin, S Amer
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Analysis Animals Base Sequence beta-Crystallin B Chain - genetics Bhutto, Zulfiqar Ali Biology and Life Sciences Blood Blood cells Cataract - congenital Cataract - genetics Cataracts Chromosome 22 Chromosomes Chromosomes, Human, Pair 22 - genetics Congenital diseases Consanguinity Deoxyribonucleic acid DNA Embryogenesis Erythrocytes Exons Family Family medical history Female Gene expression Gene Expression Profiling Genetic aspects Genetic disorders Genetic Markers Genetics Genomes Genomics Haplotypes Haplotypes - genetics Health sciences Humans Kinases Lens, Crystalline - embryology Lens, Crystalline - metabolism Leukocytes Linkage analysis Lod Score Male Medicine and Health Sciences Mice Microsatellite Repeats - genetics Molecular biology Mutation Mutation - genetics Pedigree Phenotypes Polymorphism, Single Nucleotide - genetics Protein kinase C Proteins Research and Analysis Methods Risk factors Single nucleotide polymorphisms Single-nucleotide polymorphism Slit Lamp Statistical analysis White blood cells
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