Meanings of recessive mutation in anglès

Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified.

Under this regimen, a single recessive mutation appeared in each of three replicate populations.

Genetic analysis demonstrated that the phenotype of ygl1 was caused by a recessive mutation in a nuclear gene.

Genetic tests indicate it is caused by an autosomal recessive mutation on mouse Chromosome 13 near the cr and Xt genetic loci.

Dense incisors (din) is a new autosomal recessive mutation in the mouse that interferes with complete eruption of the incisors.

We demonstrate the use of this database in identifying a recessive mutation underlying embryonic death and a dominant mutation underlying lethal chrondrodysplasia.

The benefits of diploidy are considered to involve masking partially recessive mutations and increasing genetic diversity.

It is most likely that imprinted gene(s) rather than recessive mutations cause the common phenotype.

In many populations, loss-of-function recessive mutations of TMC1 are associated with profound deafness across all frequencies tested.

Here, we report 26 patients from 12 families with recessive mutations in ADCK4.

Mice with autosomal recessive mutations in the same gene have recently been shown to have a strikingly similar phenotype.

Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion.

A genetic screen for recessive mutations in this region recovered thirteen lines with phenotypes relevant to a variety of clinical conditions.

The condition was recently described to result from autosomal recessive mutations in XYLT1, encoding the enzyme xylosyltransferase-1.

We describe three patients from two families (from Australia and the UK) with a myopathy caused by recessive mutations in MYH7.

Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2.