Sentence examples for mutation is documented from inspiring English sources

When a mutation is documented in an affected individual, genetic counseling and mutation analysis should be offered to related family members.

A family was considered to be eligible for the study when a BRCA1 or a BRCA2 mutation was documented in the family and at least one case of invasive breast cancer was recorded.

We considered a family to be eligible for the study when a BRCA1 or BRCA2 mutation was documented in the family and at least one case of invasive breast cancer was recorded.

Recently, HDAC8 mutations were documented in several CdLS patients (8).

p53 mutations were documented in over 50% of human cancers.

Specific Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations were documented in 17 of the 25 patients.

Also in this study, co-occurrence of EZH2 and TET2 mutations was documented with mutant EZH2 being the first to appear.

We describe the clinical history of a family, including a case in which double heterozygosity for two MODY mutations was documented.

We screened a cohort of 800 individuals with nephronophthisis with retinopathy, and found four carrying the M1 mutation, close to the predicted 0.0036 expected carrier frequency and no convincing second mutations were documented in this cohort.

Noteworthily, no H3.3 mutations were documented in cerebellar HGG, so it is unlikely that a high incidence of the K27M H3.3 mutation might explain the poor prognosis of the cerebellar subset.

Although our data would suggest that 8q gain is important in the development of HPV-negative vulvar cancer, the number of cases in the present study are too small to clearly indicate whether 8q gain is redundant in the development of HPV-positive vulvar cancers, as is documented for mutations in the p53 gene (Flowers et al, 1999; Brooks et al, 2000).