Heterozygous mutation, an A to G transition at nucleotide 368 (NM_003106), which results in an aspartic acid to glycine substitution at amino acid 123 of the protein product. (ii) Control sequence. (b) Functional B group SOX domains including N-terminal domain, HMG DNA-binding and bending ...
Heterozygous carriers who take oral contraceptives are at a 15 fold increased risk of VTE, while carriers also heterozygous for Factor V Leiden have an approximate 20 fold higher risk and it seems to be increased when FII G20210A transition is associated with the Factor V Leiden mutation. In ...
It is possible to have a mutation in only 1 of your prothrombin genes. If this is the case, it is said that you are heterozygous for the gene mutation; you inherited the mutation from either your mother or your father. It is rare to have a mutation in both copies of the prothrombin ...
Knockout (KO) mice were produced by heterozygous-heterozygous mating. We used WT littermates for comparison. The genotype was confirmed by PCR using primers as shown in Table S1. Enzyme-linked immunosorbent assay (ELISA) for serum anti-dsDNA antibody measurement. Serum anti-dsDNA antibody...
Namely, genotype–sex interaction on asthma was characterized by nonadditivity; that is, heterozygous boys had the highest risk for asthma, and heterozygous girls had the lowest risk.11 Polymorphisms in the genetic area close to the IFNG gene on chromosome 12 (which includes a larg...
Background Factor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is commonly ... M Aljabry,A Algazlan,Alsubaie, NoufBin Dher, ShathaAljabri, Hassan SemarAlotaibi, Ghazi S. - 《Journal of Medical Case Reports》 被...
Idiopathic Budd-Chiari syndrome in a patient with homozygous factor Leiden and heterozygous Factor G20210A mutation on the prothrombin gene. de Stefano V,... VD Stefano,P Madonna,A Giannino,... - 《Thrombosis Research》 被引量: 22发表: 2000年 Double-homozygosity for factor V Leiden and the...
(2004) Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: ... Dragon-Durey,M.-A. - 《Journal of the American Society of Nephrology》 被引量: 713发表: 2004年 Role of truncating mutations in MME gene in feto...
We identified a heterozygous missense LMAN1 mutation (C475R) in the proband of an Argentinean family of Italian origin (B17). No other mutations were found in this patient. RT-PCR analysis of lymphoblast RNA revealed that only the missense allele is expressed at the mRNA level, indicating tha...
Ovarian morphology and endocrine characteristics of female sheep fetuses that are heterozygous or homozygous for the Inverdale prolificacy gene (FecXI). Biol. Reprod. 57, 1183–1192 (1997). Article CAS Google Scholar Davis, G.H., Bruce, G.D. & Reid, P.J. Breeding implications of the ...