Silent point mutation in DsRed resulting in enhanced relative fluorescence intensity

Silent point mutation in DsRed resulting in enhanced relative fluorescence intensity.

silent mutation in kiss1 and kiss1r and unexplained infertility

Phenotypic diversity resulting from a point mutation in a plp gene in paralytic tremor rabbit

Paralytic tremor (pt), a hereditary neurological disorder of rabbits, is a recessive, X-linked point mutation in exon 2 of the plp gene, responsible for substitution of 38 His by Glu in the PLP molecule. Pt genotype is expressed in a range of phenotypes, distinguished by the severity of neurological symptoms. Variable course of the disease, from totally asymptomatic to serious disorder, is obse...

Point mutation (C to T) of the LCAT gene resulting in A140C substitution.

Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, proteinuria, and a low serum level of high-density lipoprotein cholesterol (HDL-C). Also, LCAT activity is remarkably decreased or absent. A 57-year-old Japanese man presented with corneal opacity, proteinuria, and a very low serum level of HDL-...

Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...