| scholarly article | Q13442814 |
| P2093 | author name string | Vanita Vanita | |
| Daljit Singh | |||
| Jai Rup Singh | |||
| Kamlesh Guleria | |||
| P2860 | cites work | Connexin46 mutations in autosomal dominant congenital cataract | Q22009399 |
| Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice | Q24316262 | ||
| A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q | Q24316327 | ||
| A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract | Q24655185 | ||
| A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance | Q24675091 | ||
| Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3) | Q28140425 | ||
| A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract | Q28185734 | ||
| A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family | Q28255583 | ||
| A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q | Q28267823 | ||
| Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population | Q28279336 | ||
| A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family | Q28296595 | ||
| Unique and redundant connexin contributions to lens development | Q28510702 | ||
| Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation | Q28511712 | ||
| Structural and functional diversity of connexin genes in the mouse and human genome | Q34137753 | ||
| Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. | Q34372121 | ||
| Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. | Q36288205 | ||
| A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. | Q38508029 | ||
| Connections with connexins: the molecular basis of direct intercellular signaling | Q41006464 | ||
| Physiological properties of the normal lens | Q41336645 | ||
| Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract | Q43006704 | ||
| Aetiology of congenital and paediatric cataract in an Australian population | Q43009427 | ||
| Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract | Q43887395 | ||
| The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. | Q44669032 | ||
| Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin | Q46976322 | ||
| Molecular mechanism underlying a Cx50-linked congenital cataract | Q48915915 | ||
| Identification of a proline residue as a transduction element involved in voltage gating of gap junctions | Q49130119 | ||
| Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. | Q50675466 | ||
| A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract | Q57897033 | ||
| Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies | Q58184759 | ||
| Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity | Q68069632 | ||
| Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations | Q71960086 | ||
| Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) | Q73215533 | ||
| Genetic and segregation analysis of congenital cataract in the Indian population | Q73433864 | ||
| A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract | Q80788876 | ||
| P304 | page(s) | 797-803 | |
| P577 | publication date | 2007-06-04 | |
| P1433 | published in | Molecular Vision | Q6895981 |
| P1476 | title | A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene | |
| P478 | volume | 13 |
| Q35024318 | A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree |
| Q35189316 | A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q |
| Q37012783 | Congenital cataracts and their molecular genetics |
| Q36763879 | Connexin mutants and cataracts |
| Q35736331 | Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family |
| Q37811014 | Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development. |
| Q36233134 | Lens gap junctions in growth, differentiation, and homeostasis. |
| Q34208188 | Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms |
| Q33816508 | Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3) |
| Q36892897 | Mutational screening of Indian families with hereditary congenital cataract |
| Q37285156 | Oxidative stress, lens gap junctions, and cataracts |
| Q36675879 | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing |
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