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Heterozygote studies in cystinosis
Clinica Chimica Acta, 1970Abstract The intracellular cystine in the leucocytes and cultured skin fibroblasts of heterozygotes for nephropathic cystinosis is primarily located in a granular cell fraction. Compartmentalization of cystine in a similar fraction has been previously shown for cystinosis homozygotes. The observations suggest that the primary metabolic derangement in
J D, Schulman +3 more
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Heterozygote detection in phenylketonuria
Clinical Genetics, 1977Phenylalanine loading was carried out on 105 parents of children with phenylalanine hydroxylase deficiency and 33 apparently normal individuals with no family history of phenylketonuria. The best discriminant was found to be the logarithmic transformation of the slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration ...
F, Güttler, G, Hansen
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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
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Gene Expression in Heterozygotes
Nature, 1962IN many cases a gene appears to function only by synthesizing a polypeptide chain through the mediation of ribonucleic acid (RNA), and hence controlling the synthesis of a protein. A mutation may cause a different polypeptide chain to be synthesized, for example, in the haemoglobinopathies, or may result in failure to produce a polypeptide chain at all.
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Detection of heterozygotes for phenylketonuria
Clinica Chimica Acta, 1960Abstract A method is described which can be used to detect the heterozygote (carrier) for phenylketonuria. It is based on the determination of blood tyrosine at various intervals following the ingestion of a large dose (2 mmoles/kg) of l -phenylalanine.
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