Sentence examples for mutation present with from inspiring English sources

Homozygous carriers of the I1061T mutation present with a relatively mild neurological form of the disease with onset in juvenile years; importantly, their clinical presentation is homogeneous.

These analyses revealed, that with regard to the entire patient population (n = 109), patients harbouring B-RAF mutations show a similar survival as patients without a mutation in B-RAF or N-RAS, whereas patients carrying an N-RAS mutation present with a favorable survival (p = 0.11, tissues, Figure 3C; p = 0.004, cell lines, Figure 3F).

In fact, patients carrying the P253R mutation present with more severe syndactyly (Slaney et al., 1996).

Patients with Stickler syndrome caused by human LOXL3 mutation present with symptoms of high non-progressive myopia (14).

Furthermore, 15 30% of JMML cases that lack the NF-1 mutation present with activating ras mutations [ 19].

Animals expressing the p53S18A mutation present with accelerated aging, and cells from these mice undergo early senescence [ 5].

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

Patients carrying one 199T>C mutation presented with residual activities above 10%.

Thus, it is not surprising that the patient carrying the F1473C mutation presented with extreme QT prolongation (approximately 800 ms).

Furthermore, germline SDH mutation presenting with pituitary neoplasia is extremely rare (none in 309 consecutive adenomas).