Sentence examples for mutations were ascertained from inspiring English sources

Plasmids were purified and point mutations were ascertained by sequencing.

The 10 families (14 homozygous/compound heterozygous individuals) with ZFP57 mutations were ascertained through TNDM1 diagnostic testing.

Assuming further that missense mutations and nonsense mutations are ascertained with an equal probability, the ascertainment depth of missense mutations is Sn/ Tn.

The presence of BRCA1 mutations was ascertained as previously reported [16], whereas sporadic cases were selected based on negative family history of cancer and age of onset >40 years.

The presence of mutations was ascertained using the Sequencher program (Gene Codes Corp., Ann Arbor, MI, USA).

Presence or absence of nuclear gene mutations is ascertained by direct Sanger sequencing of PCR-amplified products.

During investigation of the patterns of indels in the 21 tumors, two further hallmarks of BRCA1/2 mutation were ascertained.

Individuals with a strong family history of melanoma (i.e., families comprising at least three relatives with a confirmed melanoma diagnosis) and a known family-specific CDKN2A mutation were ascertained via the Westmead Institute for Cancer Research/ University ofSydney centre of the Genetic Epidemiology of Melanoma study.

The M404V mutation was ascertained in individuals listed in bold.

Subsequently, the presence of this mutation was ascertained in the subject of this report at the age of 36 years, when still in good health.

Neonatal hypoglycemia has been reported in only a minority of patients (11%) with HNF4A mutations who were ascertained by their family history of MODY (14, 15), and none of the ten heterozygous relatives in our study were known to have had neonatal hypoglycemia.