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  • Genetics  (1)
  • Height and weight per centiles  (1)
  • 1990-1994  (2)
  • 1990  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 452-456 
    ISSN: 1432-1076
    Keywords: Marfan syndrome ; Cardiovascular manifestation ; Height and weight per centiles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Forty-eight children and adolescents (mean age 10.5 years, range 1.25–18 years) with clinical evidence of Marfan syndrome were studies. Height and weight percentiles were established. Cardiac dimensions and morphology were studied by M-mode and 2D-echocardiography. At diagnosis left atrial and left ventricular end-diastolic diameter and left ventricular posterior wall thickness were within normal limits except in a few adolescent patients. Interventricular septum was thickened in about 20% and aortic diameter increased in 56% of the patients. An additional 13% of patients developed aortic dilation during the study period. At diagnosis regression analysis revealed a significant (P〈0.05) correlation of the aortic diameter, septal thickness and the posterior left ventricular wall thickness and body surface area. Follow up studies of 19 patients allowed documentation of the development of aortic root dilation.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 0749-503X
    Keywords: Threonine metabolism ; amino acid biosynthesis ; homologous domains ; chromosome III ; gene organisation ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: The gene encoding theonine synthase (THR4) from the yeast Saccharomyces cerevisiae was cloned by complementation of a thr4 mutant. This gene was also found on a lambda clone (5239) consisting of a fragment of chromosome III inserted in the vector lambda MG3. The THR4 gene encodes a protein of 514 amino acids (M.W. 58 kDa), which has extensive homologies with E. coli threonine synthase (thrC) and B. subtilis threonine synthase. The 5′ flanking region of the gene contains three regulatory sequences. [TGACT(C)] for the general amino acid control (GCN).About 130 bp downstream of the THR4 gene another open reading frame (563 amino acids) is found in the opposite orientation. This may imply that this open reading frame, called CTR86, shares a terminator region with THR4. The function of the protein encoded by CTR86 is not yet clear, but the fact that the upstream region contains a GCN4 responsive site that the gene product may also be involved in amino acid biosynthesis.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
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