Pages that link to "Q28299532"

The following pages link to Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract (Q28299532):

Displaying 44 items.

• A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family (Q24610243) (← links)
• Identification of crystallin modifications in the human lens cortex and nucleus using laser capture microdissection and CyDye labeling (Q33547400) (← links)
• A new locus for autosomal recessive congenital cataract identified in a Pakistani family (Q33655839) (← links)
• Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract (Q33753836) (← links)
• Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family (Q33758608) (← links)
• Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. (Q33793867) (← links)
• Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q (Q34410766) (← links)
• Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p (Q34452891) (← links)
• Phosphoproteomics characterization of novel phosphorylated sites of lens proteins from normal and cataractous human eye lenses (Q34511275) (← links)
• Mutations in FYCO1 cause autosomal-recessive congenital cataracts. (Q35039919) (← links)
• Mutation analysis of 12 genes in Chinese families with congenital cataracts (Q35175335) (← links)
• Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity (Q35221064) (← links)
• Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts (Q35786723) (← links)
• GNAT1 associated with autosomal recessive congenital stationary night blindness (Q35921448) (← links)
• A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts (Q36057514) (← links)
• Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts (Q36182823) (← links)
• Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts (Q36218029) (← links)
• Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis) (Q36251461) (← links)
• The human crystallin gene families (Q36560918) (← links)
• A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract (Q36572660) (← links)
• Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion (Q36611976) (← links)
• A novel GJA8 mutation causing a recessive triangular cataract. (Q36645328) (← links)
• SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. (Q36695789) (← links)
• Comparative proteomics analysis of degenerative eye lenses of nocturnal rice eel and catfish as compared to diurnal zebrafish (Q36727735) (← links)
• A missense mutation in LIM2 causes autosomal recessive congenital cataract (Q36741962) (← links)
• Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells (Q36910699) (← links)
• Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes (Q36931113) (← links)
• A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan (Q36992136) (← links)
• Congenital cataracts and their molecular genetics (Q37012783) (← links)
• Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. (Q37198214) (← links)
• Identification of interaction sites between human betaA3- and alphaA/alphaB-crystallins by mammalian two-hybrid and fluorescence resonance energy transfer acceptor photobleaching methods (Q37258584) (← links)
• Truncated human betaB1-crystallin shows altered structural properties and interaction with human betaA3-crystallin (Q37423346) (← links)
• Fine mapping of chromosome 9 locus associated with congenital cataract (Q38741573) (← links)
• Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis (Q39370800) (← links)
• A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus (Q41231073) (← links)
• Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses (Q41824732) (← links)
• Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (Q42649104) (← links)
• Interaction of βA3-Crystallin with Deamidated Mutants of αA- and αB-Crystallins (Q43116318) (← links)
• Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. (Q51106670) (← links)
• Novel mutations in identified by targeted exome sequencing in Chinese families with congenital cataract (Q58597265) (← links)
• A novel mutation in CRYBB2 responsible for inherited coronary cataract (Q81618620) (← links)
• Biology of Inherited Cataracts and Opportunities for Treatment (Q90123200) (← links)
• Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family (Q91800580) (← links)
• Mutations in FYCO1 identified in families with congenital cataracts (Q94474868) (← links)