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PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0137973 - e0137973
Purpose This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.... 
B-CRYSTALLIN MUTATION | CONSANGUINEOUS PAKISTANI FAMILIES | POSTERIOR POLAR CATARACT | MULTIDISCIPLINARY SCIENCES | CARDIOMYOPATHY | NUCLEAR CATARACT | CHINESE FAMILY | LOCUS | BLINDNESS | NONSENSE MUTATION | GENE CAUSES | Haplotypes | alpha-Crystallin B Chain - genetics | Slit Lamp | Exons | Humans | Male | Mutation, Missense | Lod Score | DNA Mutational Analysis | alpha-Crystallin B Chain - chemistry | Female | Microsatellite Repeats | Disease Models, Animal | Genetic Linkage | Gene Expression | Cataract - diagnosis | Computational Biology | Genes, Recessive | Animals | Cataract - congenital | Pedigree | Cataract - genetics | Chromosomes, Human, Pair 11 | Consanguinity | Mice | Evolution, Molecular | Cataract | Genetic disorders | Gene mutations | Physiological aspects | Genetic aspects | Research | Risk factors | Cataracts | Health sciences | Disease | Cardiomyopathy | Erythrocytes | Genomes | Family medical history | Leukocytes | Blood | Gene sequencing | Proteins | Genotype & phenotype | Conserved sequence | Missense mutation | Evolutionary conservation | Interrogation | Chromosome 11 | Genetics | Deoxyribonucleic acid--DNA | Linkage analysis | Phenotypes | Congenital diseases | Blood cells | Embryos | Medicine | White blood cells | Dimensional tolerances | Photographs | Gene loci | Mutation | Molecular biology | Lenses | DNA sequencing | Index Medicus | Deoxyribonucleic acid | DNA
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