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Biomedical subjects

J Detter

Publications and source records attributed to J Detter.

7 recordsLinked to original sources
PubMed1980

Hematology Problem.

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Anemia, Sickle Cell↗
PubMed1976

Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.

Hb M Hyde Park disease was detected in a girl who for several years was thought to have cyanotic heart disease. The problems of recognizing the condition are outlined and clues to diagnosis are discussed. Evidence for heme loss from the aberrant beta chains of Hb M Hyde Park and production of an unstable molecule is presented. The normal haematological findings in the patient's parents, as well as their blood groups and isozymes, suggest that the occurrence of her Hb M Hyde Park was the result of a fresh mutation.

Blood Group Antigens↗
PubMed1969

6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia.

In a study of 41 patients with chronic myelocytic leukemia, two were found to have the 6-phosphogluconate dehydrogenase heterozygous phenotype A-B, and two had the phenotype characteristic of Pd(B) homozygosity. Since one of the two with Pd(B) homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a Pd(A) gene not expressed in her blood cells. his was confirmed by electrophoretic analysis of her fibroblasts, which had the A-B phenotypic pattern. Gene deletion is considered to be the most likely explanation.

Alleles↗