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compound heterozygote — an individual possessing two different mutant alleles at the same locus, one on each homologous chromosome … Medical dictionary
Heterozygote — A person possessing two different forms of a particular gene, one inherited from each parent. A heterozygote is also called a carrier. For example, a woman who is a heterozygote for cystic fibrosis (CF) carries the CF gene on one of her… … Medical dictionary
Compound heterozygosity — in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. Compound heterozygosity reflects the diversity of the mutation base for many… … Wikipedia
compound — 1. In chemistry, a substance formed by the covalent or electrostatic union of two or more elements, generally differing entirely in physical characteristics from any of its components. 2. In pharmacy, denoting a preparation containing several… … Medical dictionary
Heterozygote — Heterozygotie ist die Mischerbigkeit in Bezug auf ein genetisches Merkmal. Ein Individuum mit zwei Chromosomensätzen (diploid) ist heterozygot in Bezug auf dieses Merkmal, wenn ein Gen in diesen Chromosomensätzen in zwei verschiedenen Allelen… … Deutsch Wikipedia
Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… … Wikipedia
гетеродуплексный анализ г гибридизационный а — гетеродуплексный анализ, г. гибридизационный а. * гетэрадуплексны аналіз, г. гібрыдызацыйны а. * heteroduplex analysis or h. hybridization a. метод выявления генных мутаций путем смешивания амплифицированной при ПЦР мутантной молекулы ДНК с ДНК… … Генетика. Энциклопедический словарь
Faktor-XI-Mangel — Klassifikation nach ICD 10 D68 Sonstige Koagulopathien … Deutsch Wikipedia
ALDH5A1 (gene) — Aldehyde dehydrogenase 5 family, member A1 (succinate semialdehyde dehydrogenase), also known as ALDH5A1, is a human gene.cite web | title = Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate semialdehyde dehydrogenase)|… … Wikipedia
Rothmund-Thomson-Syndrom — Klassifikation nach ICD 10 Q82.8 Sonstige näher bezeichnete angeborene Fehlbildungen der Haut … Deutsch Wikipedia
