Sentences with phrase «heterozygous deletion»
They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c. 92T > C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c. 31G > T (p.Asp11Tyr).
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The majority of cases of Lynch syndrome are attributed to heterozygous germline mutations in the DNA mismatch repair genes MLH1 and MSH2, and current methods for DNA sequencing and deletion analysis can successfully detect these mutations.
Mice with a homozygous SMN1 deletion are the offspring of heterozygous carriers, mimicking the SMA genetics in humans.
Analysis of Pdgfrb - Cre - mediated conditional mutagenesis revealed germline expression of Pdgfrb - Cre in both male and female mice resulting first in a heterozygous and following a second round of breeding a homozygous global deletion of Tie2 (Supplementary Fig. 14).
Michel DuPage and colleagues induced sarcoma through deletion of p53 and expression of oncogenic Kras (G12D) in Rag2 - heterozygous (KP) or Rag2 - knockout (KPR) mice.
However, it took whole - genome sequencing to identify the second disease allele, a heterozygous ~ 55 kb deletion spanning at least three other exons in the gene.
We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS.