必应词典为您提供truncation-mutation的释义,网络释义: 截短变异;截断突变;
Here, we report a Japanese girl with a novel heterozygous nonsense mutation inwho exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings ...
2) truncated mutation 截断突变3) blocked mutant 阻断突变体 例句>> 4) Cutting variable demension 截断变维5) abrupt change in section 截面突变处6) break section 突变断面补充资料:操纵基因突变体 分子式:CAS号:性质:因操纵子的操纵基因突变而导致调节蛋白无法与之结合的细菌突变体。其特点是操纵子...
英汉-汉英词典 n.切 近义、反义、联想词 词 n. lowness,carving,cutting,shortening 联想词 recursive回归的,递归的;mutation突变;duplication复制, 重复;inversion倒置,倒装;encoding编码;quadratic二次的;polynomial多项式;normalization常态化;interpolation窜改;derivation发展;overexpression超表达; ...
Development of multilineage adult hematopoiesis in the zebrafish with a runx1 truncation mutation. Blood 115 - Sood, MA, et al. - 2010 () Citation Context ...lations of tissue specific promoter driven sequences, clever methodologies have been devised, including combining tissue specific FP ...
A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice Mutations of SQSTM1 occur in about10% of patients with Paget's disease of bone (PDB), but it is unclear whether they play a causal role or regulate suscept... ...
Co-segregation analysis showed that the nonsense mutation was a de novo mutation and that the insertion and the missense variant were also found in the asymptomatic mother. In the absence of skewed X inactivation in the mother, it is likely that these last two variants are not pathogenic. ...
mutation between edited gene alleles and wild-type gene alleles. PCR products were obtained using the condition consisting of denaturing at 95 °C for 2 min, decelerating 2 °C/s to 85 °C, decelerating 0.1 °C/s to 25 °C, and holding at 16 °C for 10 min. For...
Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, suggesting that mutation position might influence disease mechanis...
In 45 patients from breast and/or ovarian cancer families we found six novel mutations: two single nucleotide insertions, three small deletions (1–5 bp) and a nonsense mutation identified two unrelated families. Furthermore, we were able to amplify the remaining coding region by RT–PCR using...