Sentence examples for a frequent mutation in from inspiring English sources

A frequent mutation in the CBS gene in Caucasian patients, c.919G>A (p.G307S), is one of the most common causes of homocystinuria in patients of Celtic origin [13] and this mutation accounted for 71% of alleles in Irish homocystinuria patients [14].

The present study was designed to extend our previous results obtained in rd1 mouse (a relevant model of human recessive RP) to transgenic rhodopsin P23H mutant rat, a frequent mutation in dominant human disease and a good model for studying long-term effects and functional phenomena.

The BRCA1 c.3700_3704del5 mutation is a frequent mutation in Germany [ 17, 21].

A frequent mutation in the IARC TP53 mutation database resides in codon 175.

A rare mutation was detected in the BRCA1 gene and a frequent mutation in the BRCA2 gene.

Although L110P may be a frequent mutation, especially in Japanese patients, there were no marked differences in the clinical picture between L110P/E148Q and E148Q alone.

Taken together, these findings highlight BRAF as a frequent mutation target in pediatric astrocytomas, with distinct types of BRAF alteration occurring in grade 1 versus grade 2 to 4 tumors.

None of the candidate TSGs (CACNA2D2, PL6, 101F6, NPRL2, BLU, RASSF1, FUS1, HYAL2, HYAL1 and SEMA3B) showed a frequent mutation rate in lung cancer samples however, suggesting that they may function in dose-dependent manner (see [ 1] for review).

Arg6 and His68 form hydrogen bonds with Asp274, a residue located at the end of the helix and preceding Arg275, a frequent mutation site in familial PD (R275W).

This mutation may represent a candidate frequent mutation in the Italian population.

However, it is likely that the E1373X mutation is not a founder frequent mutation in the PA population.