… mutations. In addition, we describe the clinical phenotype of two patients with proximal truncating
mutations… of early-onset PID in 46/50 patients (mean age of onset 5.9 years, median 4.0 …

… and inadequate repair of DNA damage. Here we define a … mutator phenotype in cancer.
We initially proposed that the multiple mutations found in tumor cells would result from mutations …

… ” phenotypes represent ATM mutations, including some of those without telangiectasia. Our
findings extend the range of phenotypes associated with ATM mutations. … to DNA damaging …

… Our focus here will be on mutations in genes associated with the … between mutated
genotypes and pathological phenotypes … Lemasters: If we damage mitochondria we can induce …

… XP patients are unable to repair UV radiation-induced DNA damage due to mutations in the
… Most recently, biallelic germline mutations were identified in five patients with the unique …

… Our findings broaden the scope of phenotypes caused by mutations in NFKB1 and suggest
that a subset of autoinflammatory diseases, such as Behçet disease, can be caused by rare …

… mutations, and there are known founder mutations that … Jewish women for the three founder
mutations in this group may … coding region and splice site mutations; however, the problem of …

… Some individuals with a particular disease-causing mutation … known examples of ‘disease-causing
mutations’ that fail to cause … can be a function of the specific mutation(s) involved or of …

… -inactivating mutations can exert a spectrum of dominant negative phenotypes, indicating …
processes such as DNA replication, the DNA damage response, and protein trafficking. This …

… patients that could get increased benefit from these therapies. In this study, we evaluated the
phenotypic … However, we were not able to verify the presence of the potentially damaging p.…