Homozygous or compound heterozygous defects in the hepcidin gene (HAMP) and in genes that stimulate hepcidin production such as HFE, HJV and TFR2 are therefore associated with hemochromatosis. Ferroportin disease is not classified as hemochromatosis because it is classically not associated with high ...
The majority of the unrelated individuals with low NK activity were homozygous or doubly heterozygous for HLA-B7 (Cw7), B8 (Cw7), B44 (Cw5), B18, or B57 (Cw6). Thus, these alleles form one complementation group designated NKB1. Another less frequent group, NKB2, was also identified,...
The probability of a selfed heterozygous plant giving no homozygous recessives in a family of ten plants is (0.75)10, approximately 5.7 per cent., so that 23 segregating families must represent 947 per cent. of the true frequency of segregating families, giving corrected frequencies of non- ...
intronic and non-coding RNA variants were removed. Missense, nonsense, insertion/deletion and splice-site variants that were homozygous with a Minor Allele Frequency (MAF) of > 0.01 were excluded and heterozygous variants with a MAF of > 0.001 according to the GnomAD database (https:/...
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation BACKGROUND & AIMS: In the absence of a genetic test, diagnostic criteria for hereditary hemochromatosis have been imprecise. The identification of the HFE ... DHG Crawford,EC Jazwinska,LM Cullen,...
Homozygous null embryos develop normally to the blastocyst stage, implant, and invade the uterine basement membrane but die shortly thereafter. Using beta 1... R Fassler,M Meyer - 《Genes & Development》 被引量: 1230发表: 1995年 Disruption of the talin gene arrests mouse development at the ga...