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pro vyhledávání: '"Simonetta Trabace"'
Autor:
E. Gandini, M. Ramenghi, Bruno Dallapiccola, Simonetta Trabace, Pierpaolo Mastroiacovo, L. Santoro
Publikováno v:
Human Genetics. 38:125-130
Report is given of a mentally retarded and dysmorphic patient with a partial monosomy 8q, resulting from a de novo translocation t(4;8)(q13;q213). Oetermination of erythrocyte glutathione reductase (E-GSR) activity in the proposita shows activity in