Pages that link to "Q36645328"

The following pages link to A novel GJA8 mutation causing a recessive triangular cataract. (Q36645328):

Displaying 22 items.

• A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family. (Q30360281) (← links)
• A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family (Q33758626) (← links)
• A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree (Q34081448) (← links)
• Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms (Q34208188) (← links)
• Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family (Q34493869) (← links)
• Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study. (Q34628639) (← links)
• Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract. (Q34693091) (← links)
• Mutation analysis of 12 genes in Chinese families with congenital cataracts (Q35175335) (← links)
• Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract (Q35209179) (← links)
• Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1 (Q36182932) (← links)
• Lens gap junctions in growth, differentiation, and homeostasis. (Q36233134) (← links)
• Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing (Q36675879) (← links)
• Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. (Q36746245) (← links)
• Connexin mutants and cataracts (Q36763879) (← links)
• A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor (Q37012453) (← links)
• The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. (Q37346452) (← links)
• A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. (Q37479018) (← links)
• Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development. (Q37811014) (← links)
• Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis (Q39370800) (← links)
• A cataract-causing connexin 50 mutant is mislocalized to the ER due to loss of the fourth transmembrane domain and cytoplasmic domain (Q41262299) (← links)
• New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. (Q49723099) (← links)
• Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia (Q63979703) (← links)