منابع مشابه
’s syndrome heterozygotes in Japan
Werner’s syndrome is an autosomal recessive disease that causes premature ageing accompanied by an increased susceptibility to cancer. The causative gene (W R N) codes for a DNA helicase. Worldwide, 1200 patients have been reported from 1904 to 1996; 845 from Japan. Patients are distributed all over Japan. But how widely distributed is the mutated WRN gene in the general population? We previous...
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Estimation of plasma phenylalanine and tyrosine by an abridged (30 mm) column chromatography procedure was assessed. Plasma phenylalanine and tyrosine concentrations, determined in 112 phenylketonuric obligate heterozygotes and in 88 normal controls, did not differ significantly from other reported series in which the data were obtained by column chromatography. All these series were combined a...
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Two daughters of a propositus with documented McArdle's disease were shown by enzyme assay, gel electrophoresis, and immunoblotting to be partially deficient in skeletal muscle phosphorylase and, presumably, heterozygous for the trait. Both exhibited only the adult form of the skeletal muscle isozyme. By 31P-nuclear magnetic resonance, both heterozygotes showed a greater production of acid duri...
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During the course of certain experiments designed to demonstrate ' antagonistic bacteria ' for intestinal pathogenic bacteria of man, the interesting observation was made, that manysamples of garden and field soil contain bacteriophages active against these organisms. A 1 in 100 suspension in saline of soil when added in 1 c.cm. amounts to melted agar containing a thick suspension of one of the...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1959
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.45.10.1507