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Further transfection assay and mutation analysis showed that the core promoter contains a functional initiator.
Cytogenetic analysis of metaphase chromosomes showed normal karyotypes in 13 of the 14 evaluated index cases; one index case carried a familial pericentric inversion on chromosome 2. Mutation analysis showed no sequence changes unique to index cases, as compared to control individuals, and as studied by single strand conformational polymorphism (SSCP) analysis of the coding region of RET.
Mutation analysis showed that the RSLESD sequence is indeed the site of 14-3-3 14-3-3 14-3-3nd confinteractionphosphorylandon by confirmedrs athatr1181.
Mutation analysis showed that both affected individuals were homozygous, and the parents were heterozygous, for a G to A transition at nucleotide c.221 (c.221G>A) predicting the non-conservative amino acid substitution G74D (Figure 4H).
In the mother, the mutation analysis showed that she carries the same heterozygous mutation.
Subsequent mutation analysis showed that this individual indeed did not carry the disease causing mutation in MLH1.
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The corresponding quality metrics (code coverage and mutation analysis), shown in Figs. 4, 7, 8, and 9, followed the quantity patterns.
The diagnosis AAT deficiency was confirmed by mutation analysis showing the PI*ZZ genotype in the neonate.
Mutational analysis showed that mutations disrupting the binding of ST to protein phosphatase 2A (PP2A) counteracted this effect.
Similar to Numb, mutational analysis shows that Pros mutations give rise to stem cell-derived tumors in larval neuroblasts [ 29- 31].
In the NSCLC patients with EGFR mutation, stratified analysis showed that the FISH-positive phenotype occurred more frequently than the FISH-negative phenotype (Table 3).
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