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Just as important, a single genetic mutation can cause cancers originating in different body parts.
It has been reported that single mtDNA point mutation can cause different cellular transcriptional responses within cells of same nuclear background.
Both genes are linked to SUDEP in people, and the sodium channel mutation can cause Dravet syndrome, a particularly aggressive form of epilepsy in children with a high SUDEP risk.
Height can, however, be affected by environmental factors; a mutation can cause offpring to have genes different from their parents that might cause greater than usual height, and malfunctioning of the pituitary gland can cause an excess of growth hormone.
Reporting in the 18 May issue of Nature Structural Biology, Hart and his colleagues reveal that mutation can cause SOD1 proteins to lose their metals, exposing patches that have just the right shape and charge for the proteins to lock onto each other.
Deficient expression of DNA repair proteins due to an inherited mutation can cause increased risk of cancer.
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Hundreds of mutations can cause varying degrees of muscular dystrophy.
(Note that there are two hypotheses for how deleterious mutations can cause the extinction of asexuals, Muller's ratchet and Kondrashov's hatchet; here, I am describing Kondrashov's hatchet. Unlike the ratchet, the hatchet does not depend on population size).
Since PTRF mutations can cause a deficiency in Cav3, these patients are considered to be at risk of developing MH.
Bi-allelic CYP24A1 mutations can cause idiopathic infantile hypercalcemia (IIH), adult-onset nephrocalcinosis, and possibly bone metabolism disturbances.
Patients with ARTEMIS deficiency usually present with severe combined immunodeficiency (SCID) and cellular radiosensitivity, but hypomorphic mutations can cause milder phenotypes (leaky SCID).
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