Sentence examples for mutation in case of from inspiring English sources

Genotyping for prevalent mutations, i.e. the 985A>G mutation in case of MCADD, may represent rapid and cost-effective confirmatory techniques.

The L80F mutation dominates over L58F mutation in case of the double mutant (L58,80F), as seen by its overall effect on SAP activity.

Similarities noted among HNF1A-MODY also showed that the presence of a major genetic determinant of disease (a dominant mutation in case of MODY) may exert a strong effect on the lipid profile and contribute indirectly toward an altered risk of CV complications.

As well as confirming the aetiology, finding a pathogenic mutation in cases of SRNS has other positive outcomes for affected patients.

This pathogenic process is caused by a heritable TTR point mutation in cases of familial TTR-related amyloidosis or wild-type TTR in cases of age-associated amyloidosis (previously called senile systemic amyloidosis).

Amino acid residues at positions 42 and 167 showed mutations in case of Bangladeshi isolates among which position 167 showed glycine instead of glutamic acid for the isolates circulating in 2014 (Hossain et al. 2015) and only one isolate from 2015 (BAN_SH_SU-3_2015) (Additional file 3: Figure S2).

At the same time, genetic counseling could include detection of Mena mutations in case of suspicion for tube closure defects, renal disorders, or cardiomyopathy.

These observations are of interest as they point out for an implication of hot spot region for adRCD- RP1 mutation also in case of arRCD.

Wu BL, Kenna M, Lip V, Irons M, Platt O. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

Recently, exome sequencing has been successfully applied in large studies to identify de novo mutations in cases of intellectual disability.

Our study focused on the possibility to increase the detection of K-Ras mutations in cases of low tumour cellularity.