Sentence examples for mutations are private from inspiring English sources

The majority of the pathogenic mutations are private and the genotype phenotype correlation is inconsistent in the rare recurrent mutations.

However, most mutations are private, i.e. reported in a single patient or in the members of the same family [9].

In Fabry disease, most mutations are private mutations and an estimate of the rate of responsive mutations is difficult to obtain.

Such analyses revealed that 61.4% of mutations are private to one single family, while only 5.7% of mutations occur in 10 or more families.

Although most of the described mutations are private, several hot spots with a higher mutation rate such as exons 4b, 7, 10b, 13, 15, 20, 29 and 37 have been described.

Most mutations are private, and those patients presenting both alleles with mutation predicting synthesis of a non-functional protein such as nonsense, small insertions and/or deletions tend to show a more severe phenotype.

In two subjects (14 and 18) all of the mutations were private.

The geographical distribution of some of the mutations indicated to be under selection was not random, and some mutations were private to artic populations.

The mutation at position 8402 T/C in COX2 that causes an amino acid change was present in all individuals that also carried the mutation at position 5768: G/A in ND2, which was identified as being under selection by TreeSAAP; these mutations were private to two arctic populations i.e.in the rivers Teno and Rynda (Fig.  1).

Out of those, 20 were found within candidate genes for albinism (OCA related genes), but a single mutation was private compared to two other sequenced gorillas (Additional file 1: Tables S1 and S2) [ 9, 10].

Although some mutations are 'private', D33V, R95H/C and R225H/C appear common; being responsible for 15%, 23% and 14% of mutated alleles, respectively.