Zobrazeno 1 - 10
of 16
pro vyhledávání: '"P E Nute"'
Publikováno v:
Journal of Medical Genetics. 12:275-279
Structural analysis documented the presence of haemoglobin LeporeWashington (=LeporeBoston) in a Greek Cypriot family and provided further evidence that, of the various types of Lepore mutants, only one is common in the Mediterranean area. Two indivi
Autor:
George Stamatoyannopoulos, P. E. Nute
Publikováno v:
Hemoglobin. 8:85-95
The recording of cases of de novo mutation in man is required if we are to calculate estimates of mutation rates in our species. Most de novo mutants are ascertained through an abnormal phenotype (a clinical syndrome) inherited as an autosomal domina
Publikováno v:
Human Genetics. 58:396-404
Hemoglobins M and unstable hemoglobins cause clinical syndromes that are transmitted in autosomal dominant fashion. Pedigrees of 50 probands with de novo mutations producing unstable Hb disease or Hb M disease were compiled. Cases were ascertained (1
Publikováno v:
Journal of Medical Genetics. 13:142-147
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
Publikováno v:
Blood. 61(3)
Six monoclonal antibodies specific for human globin chains are described. They are produced by stable clones obtained by raising hybridomas using cells of mice immunized with either adult or fetal hemoglobin. Characterization of the antibodies includ
Autor:
George Stamatoyannopoulos, P. E. Nute
Publikováno v:
Human genetics. 60(2)
Cases of unstable hemoglobin and hemoglobin M disease that have appeared as de novo mutants over a span of approximately 50 years were used to deriving minimal, direct estimates of mutation rates per nucleotide per generation in man. The estimates ar
Publikováno v:
Blood. 53(3)
Fetal hemoglobin was studied in endogenous colonies produced in plasma clot and methylcellulose cultures of circulating progenitors from patients with polycythemia vera (PV). Analysis of globin chain synthesis showed that gamma chains constituted fro
Autor:
P E, Nute, W C, Mahoney
Publikováno v:
Hemoglobin. 4(2)
The complete primary structure of the beta chain from the adult hemoglobin of a baboon, Papio cynocephalus, has been determined by automated, Edman degradation of the intact chain and four fragments derived therefrom by specific cleavage reactions. T
Publikováno v:
Human genetics. 58(4)
Publikováno v:
Blood. 46(5)
A new form of hereditary persistence of fetal hemoglobin (HPFH) producing 3%-8% Hb F in heterozygotes and an elevation of F-cell counts as measured by both the Kleihauer test and an antibody fluorescent procedure was found during the study of a black