Sentences with phrase «homozygous missense»

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).

Mice that carry a homozygous missense mutation in the Csf1 gene (Csf1op / op) are relatively macrophage deficient (43, 54, 55).

Not exact matches

Genomic DNA analyses demonstrated that two individuals were homozygous for different nonsense mutations (exon deletion or frameshift), and the third had a missense mutation encoding a nonfunctioning CHIP molecule.

They identified 3 homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs * 56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5 and, 2 variants in ATP6V0A4: a homozygous variant (p.Arg743Trp) and a known missense mutations (p.Asp411Tyr).