Sentences with phrase «by a recessive gene mutation»

The disease is caused by a recessive gene mutation.

CH is caused by a recessive gene mutation.

Not exact matches

Classic galactosemia is an autosomal recessive genetic disorder caused by mutations in the GALT gene.

The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, and at SickKids Hospital and the University of Toronto, have discovered that a severe form of epileptic encephalopathy is caused by recessive loss - of - function mutations in the gene DENND5A.

The prevalence of 185delag was 1 percent — meaning that one of 100 Ashkenazim was walking around with a gene that could kill by itself, unlike the recessive mutations.

One type had the TMC1 gene completely deleted, and is a good model for recessive TMC1 mutations in humans: Children with two mutant copies of TMC1 have profound hearing loss from a very young age, usually by around 2 years.

Sickle cell disease is a recessive genetic disorder caused by a single mutation in both copies of a gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.

Around 50 % of cases of familial recessive Parkinson's disease are caused by mutations in the PARKIN gene, which encodes a protein that belongs to the RBR ubiquitin ligase enzyme family.

RNA - guided gene drives could also cause a population crash due to the buildup of recessive mutations causing infertility or inviability or by biasing the sex ratio.

Mutations in the ASS1 gene are associated with autosomal recessive citrullinemia (OMIM 215700), which often presents with congenital brain abnormalities detectable by MRI (Majoie et al., 2004).

GM1 is an extremely severe, autosomal recessive disease caused by a mutation in the GLB1 gene and resulting in the progressive destruction of neural cells in the brain and spinal cord.

A new study led by Imperial College London has uncovered a specific gene that, when subject to recessive mutations, can lead to cases of severe obesity.

Early onset autosomal recessive parkinsonism is caused by mutations in the parkin, PINK1, and DJ - 1 genes (Kitada et al., 1998; Bonifati et al., 2003; Valente et al., 2004).

The goal of the ENU Mutagenesis project is to determine the function of genes on mouse Chromosome 11 by saturating the chromosome with recessive mutations.

Mutation in a tumor suppressor gene acts in the opposite way, causing cancer in a recessive fashion by inactivation of the tumor suppressor protein.