Sentence examples for mutation causing an from inspiring English sources

Recently, an AGU mutation causing an Arg116Trp (R116W) substitution has been described in three siblings of Turkish origin1.

Recently, a mutation causing an autosomal recessive inherited disorder characterized by dysplasia of the lens, retinal detachment, persistence of the hyaloid artery, and microphthalmia in cattle was identified [44].

The SNP genotyped in our study, rs8192708, is also a missense mutation, causing an Ile to Val change at position 267; however, the functional consequences of this change, if any, are not known.

A mutation causing an evolutionarily unlikely substitution in SUGT1 was perfectly associated with a haplotype compromising insemination success.

Various cancers are marked by unchecked cell cycles which usually results in increased rates of DNA damage and mutation, causing an increased expression of γ-H2AX [ 32].

We confirmed that the R299Q mutant is a loss-of-function mutation causing an extensive conformational change of 2 zinc fingers.

Riikonen, A. et al. Dissection of the molecular consequences of a double mutation causing a human lysosomal disease.

We studied fasting lipoprotein metabolism in an FHBL subject heterozygous for a mutation causing a truncated apoB, apoB-80.

We have previously shown that mice carrying a recessive Zdhhc13 nonsense mutation causing a Zdhcc13 deficiency develop alopecia, amyloidosis and osteoporosis.

To date, this is the only reported example of a miRNA mutation causing a Mendelian disease.

S6_15135822 is a non-synonymous mutation causing a Gln → Lys change on Cla002989, an unknown gene.