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While some diseases, like cystic fibrosis, are caused by a single genetic mutation, the most common ones are not.
A subset of melanomas carrying a BRAF V600E mutation, the most common targetable mutation in melanoma, arises in association with a melanocytic nevus also harboring a BRAF V600E mutation.
To evaluate the mechanisms underlying such increased excitability we studied mice carrying the D801N mutation, the most common mutation causing human disease, specifically alternating hemiplegia of childhood (AHC) including epilepsy.
When no isolate was available, clinical samples were directly tested by rolling circle amplification for the H274Y mutation (the most frequently reported mutation conferring oseltamivir resistance) (16 ).
The effect of truncating mutations observed in our present study might be influenced by the p.H1069Q mutation, the most frequent mutation in European WD patients.
Transgenic mice carrying the β-globin IVSI-6 mutation (the most frequent in Middle-Eastern regions and recurrent in Italy and Greece) are, at present, not available.
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Another group of mutations, the most common, prevents the protein from reaching the membrane.
Of the more than 1,500 known disease-causing CFTR mutations, the most common mutation (∼90% of mutations) is a deletion of phenylalanine 508 (the ΔF508 mutation) [6].
Furthermore, some trypanocidal drugs are well-known mutagenic compounds and might induce mutations, the most resistant of which are certainly selected under drug pressure (Hayes and Wolf, 1990).
When a cell loses PTEN through somatic mutations, the most likely effect of this will be?
Tumors from various histological origins exhibit FAS mutations, the most frequent being hematological malignancies.
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