- common missense mutation
- общая точковая мутация
English-Russian small dictionary of medicine. Г.Ю. Бельман, А.Е. Бойков.. 2015.
common missense mutation
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Missense mutation — In genetics, a missense mutation (a type of nonsynonymous mutation) is a point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid[1] (mutations that change an amino acid to a stop codon… … Wikipedia
Mutation — For other uses, see Mutation (disambiguation). Part of the Biology series on Evolution … Wikipedia
Common gamma chain — Interleukin 2 receptor, gamma (severe combined immunodeficiency) Crystallographic structure of IL 2 (center alpha helices) complexed with the common gamma chain (IL2RG; 10 O Clock to 1 O Clock), IL2RA (4 O Clock), and IL2RB (7 O Clock to 9 O… … Wikipedia
Point mutation — Illustration of three types of point mutations. A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. Often the… … Wikipedia
Sphingomyelin phosphodiesterase 1 — Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase), also known as SMPD1, is a human sphingomyelin phosphodiesterase.cite web | title = Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid… … Wikipedia
SGCA — Sarcoglycan, alpha (50kDa dystrophin associated glycoprotein), also known as SGCA, is a human gene.cite web | title = Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin associated glycoprotein)| url =… … Wikipedia
Galactosamine-6 sulfatase — Galactosamine (N acetyl) 6 sulfate sulfatase Identifiers Symbols GALNS; FLJ17434; FLJ42844; FLJ98217; GALNAC6S; GAS; MPS4A External IDs … Wikipedia
Aldolase B — is an isoenzyme of fructose 1,6 bisphosphate aldolase (aldolase A), which is also capable of cleaving fructose 1 phosphate to form glyceraldehyde and dihydroxyacetone phosphate (DHAP). The reaction is reversible. Also known as Aldolase (Class II) … Wikipedia
Lujan-Fryns syndrome — Lujan–Fryns syndrome Classification and external resources Lujan–Fryns syndrome in a young adult male, with features that include a long, narrow face and recessed chin. ICD 10 F … Wikipedia
FOXP2 — Idiogramm des FOXP2 Gens. Es liegt auf dem q Arm (langer Arm) von Chromosom 7. Rechts in Blau die 17 Exons von FOXP2.[1] Das FOXP2 Gen (engl. Abkürzung für Forkhead Box P2) kodiert das FOXP2 Protein, welches beim … Deutsch Wikipedia
KE-Familie — Idiogramm des FOXP2 Gens. Es liegt auf dem q Arm (langer Arm) von Chromosom 7. Rechts in Blau die 17 Exons von FOXP2.[1] Das FOXP2 Gen (engl. Abkürzung für Forkhead Box P2) kodiert das FOXP2 Protein, welches beim … Deutsch Wikipedia
