Sentence examples for humans mutation from inspiring English sources

In humans, mutation of OPA1 causes retinal ganglion cell death and optic atrophy [4].

In humans, mutation of XPD results in xeroderma pigmentosa, a UV-sensitive condition with increased skin cancer risk.

In humans, mutation in the NME10 gene induce Retinitis Pigmentosa, the major form of heritable blindness [ 80].

In humans, mutation in the NBS1 gene leads to the chromosomal instability disorder, Nijmegen breakage syndrome 1.

It should be noted that in humans mutation of the residue equivalent to E. coli SdhB-Pro160 (human SdhB-Pro197) has been associated with paragangliomas and phaeochromocytoma tumors.

Because of male-driven evolution [ 27] in humans, mutation rates are typically highest on the Y chromosome, intermediate on autosomes, and lowest on the X chromosome.

In humans, mutations in the ROR2 gene cause two distinct developmental syndromes, recessive Robinow syndrome (RRS; MIM 268310) and dominant brachydactyly type B1 (BDB1; MIM 113000).

In humans, mutations in FLNB disrupt vertebral segmentation, joint formation, and skeletogenesis [21].

In humans, mutations in LPIN1 are associated with metabolic syndrome and type-2 diabetes [19], [23].

In humans, mutations in CBS cause homocystinuria, associated with vascular disease [13], with >130 CBS mutations identified in patients [14].

In humans, mutations in Myo15 cause the non-syndromic autosomal recessive profound hearing loss disorder (DFNB3) [9], [9].