نتایج جستجو برای: heterozygotes
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During 1978-81 there were about 43,500 births in Birmingham, of which 10.3% were to Negroes and 22.6% to Asians. Cellulose acetate electrophoresis of red cell haemolysates from capillary specimens collected for phenylketonuria screening was performed for these babies to assess the feasibility, cost, and benefits of detecting sickle haemoglobinopathies early. Eight babies had important haemoglob...
cytes as a readily available source of this enzyme, its activity has been compared in 48 control subjects, seven homozygotes affected with homocystinuria, and 17 obligate heterozygotes. PHA-induced enzyme levels were highest in controls (mean ±SEM, 666.9±170.2 pmol cystathionine formed/mg protein per 4 h), intermediate in heterozygotes (114.4±27.3), and absent to severely deficient in homozygot...
pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. a few cytogeneticists consider inversions of chromosome 9 as a normal variant. however, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. we report a case of homozygosity pericentr...
Inadequate hepcidin synthesis leads to iron overload in HFE-hemochromatosis. We explored the regulation of hepcidin by iron in 88 hemochromatosis patients (61 C282Y/C282Y, 27 C282Y/H63D) and 23 healthy controls by analyzing urinary hepcidin before and 24 hours after a 65mg oral iron dose. Thirty-four patients were studied at diagnosis and had iron overload, and 54 patients were iron-depleted. A...
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