missense mutant

См. также в других словарях:

• Generalized epilepsy with febrile seizures plus — (GEFS+) is a syndromic autosomal dominant disorder where afflicted individuals can exhibit numerous epilepsy phenotypes.[1] GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is also now believed to encompass three other… …   Wikipedia

• heredity — /heuh red i tee/, n., pl. heredities. Biol. 1. the transmission of genetic characters from parents to offspring: it is dependent upon the segregation and recombination of genes during meiosis and fertilization and results in the genesis of a new… …   Universalium

• Mutation — For other uses, see Mutation (disambiguation). Part of the Biology series on Evolution …   Wikipedia

• Spinocerebellar ataxia type-6 — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 12339 ICD10 = ICD10|G|11|2|g|10 ICD9 = ICD9|334.9 ICDO = OMIM = 183086 MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 556 Spinocerebellar ataxia type 6 (SCA6) is a rare, late onset,… …   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

• Adenine phosphoribosyltransferase — Adenine phosphoribosyltransferase, also known as APRT, is a human gene.cite web | title = Entrez Gene: APRT adenine phosphoribosyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=353| accessdate …   Wikipedia

• Adenina fosforribosiltransferasa — Diagrama de cintas de un dímero de APRT humana unida a PRPP, a adenina y a ribosa 5 fosfato. En verde se puede apreciar un ion magnesio. Disponible en PDB …   Wikipedia Español

• Dominant white — This dominant white Thoroughbred stallion (W2/+) has one form of dominant white. His skin, hooves, and coat lack pigment cells, giving him a pink skinned white coat. Dominant white is a group of genetically related coat color conditions in the… …   Wikipedia

• Complex vertebral malformation — or CVM is a lethal hereditary syndrome found in Holstein cattle.[1][2] CVM is responsible for malformed calves that are either spontaneously aborted or die shortly after birth.[1][3] It is caused by a missense mutation in the SLC35A3 gene.[ …   Wikipedia

• Cytochrome P450 reductase — P450 (cytochrome) oxidoreductase PDB rendering based on 1amo …   Wikipedia

• Laminopathy — Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence note the irregular and bumpy shape of the laminopathic nuclei[1] Laminopathies are a group of rare genetic disorders… …   Wikipedia