Results 251 to 260 of about 114,605 (302)
Some of the next articles are maybe not open access.
Hemochromatosis in Heterozygotes
New England Journal of Medicine, 1996Hemochromatosis, first described more than 100 years ago, is a common inherited disorder of iron metabolism in people of European descent.1 Nonetheless, it has been much underdiagnosed and misdiagn...
Lawrie W. Powell, Elizabeth C. Jazwinska
openaire +1 more source
Cancer risks in A-T heterozygotes
International Journal of Radiation Biology, 1994It is well established that ataxia-telangiectasia (A-T) patients suffer a grossly elevated risk of cancer, particularly lymphoma and leukaemia, but the possibility of an excess cancer risk of cancer in heterozygotes carriers of A-T mutations is more controversial.
openaire +2 more sources
1977
An individual homozygous for a pathogenic recessive gene will have gross clinical or biochemical abnormalities which can usually be easily recognized. However, the heterozygote, carrying one abnormal (mutant) gene and one normal (wild-type) gene, will be, at least superficially, phenotypically normal because the normal gene ordinarily masks the ...
openaire +1 more source
An individual homozygous for a pathogenic recessive gene will have gross clinical or biochemical abnormalities which can usually be easily recognized. However, the heterozygote, carrying one abnormal (mutant) gene and one normal (wild-type) gene, will be, at least superficially, phenotypically normal because the normal gene ordinarily masks the ...
openaire +1 more source