Übersetzung für "Missense mutation" in Deutsch

Only few of the tested missense-mutation are treatable with the there tested drug.

Apart from that, one can only speculate that the effects of this missense mutation could be rather mild.

The c.607T > C p.C203R missense mutation is commonly observed, but other missense and nonsense mutations have also been reported.

The missense mutation leads to a substitution of a given amino acid in a protein by a different one, more specifically a non-conservative amino acid substitution.

A missense mutation leads to the replacement of a given amino acid in a protein with a different amino acid, with the amino acid replacement in particular being non-conservative.

A missense mutation leads to the replacement of a given amino acid in a protein with another amino acid, with the amino acid replacement constituting, in particular, a nonconservative amino acid substitution.

The missense mutation leads to exchange of a given amino acid in a protein for another one, the amino acid exchange being in particular a non-conservative one.

It is caused by a missense mutation in the CLCN1 gene which is responsible for the function of chloride ion channels in the skeletal muscle.

In one patient with exceptional clinical and histopahtological findings we found a missense mutation Ala546Asp, wich was reported before only one time in connection with CDL1.

In four families with clinical and histopathological CDGG1 we found a missense mutation Arg555Trypt in the codon 12 of the BIGH3 gene.

Amplification and direct sequencing of exon 1 of the K12 gene yielded a hitherto unreported heterozygous missense mutation (A413C).

The platelet-specific alloantigen system Pl(A) is based on a missense mutation at codon position 59, which was originally described as L33P.

This mutation is a so-called missense-mutation, that means formally the codon 1303 of the CFTR-gene is changed and at this site of the CFTR-protein there is then a false aminoacid (Isoleucin instead of Asparagin).

Missense mutations code for a different amino acid.

We aim to probe the pathogenicity of missense mutations in TTN Ig domains reported in human heart disease (e.g., familial DCM) in cardiomyocytes reprogrammed from human inducible pluripotent stem cells (iPS-CMs).

Heterozygous missense mutations in the connexin-26 gene, GjB2, have been described in a number of KID-patients.

Alternatively, “missense mutations” can be introduced, in which individual or multiple amino acids essential for the function (for example, amino acids that are responsible in enzymes for the substrate binding, the catalytic center or reallosteric regions, or amino acids that are responsible for the binding or interaction with other proteins or molecules) are removed or replaced by amino acid, which lead to a partial or complete loss of the function concerned.

Mutations with a change of the aminoacids ("missense mutations") like R352Q could be treatable by CFTR potentiators or CFTR correctors, this has however to be measured first and is actually part of research.