caa a22 4500 469044659 CHVBK 20180323132820.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799611 doi (NATIONALLICENCE)springer-10.1007/BF01799611 Isolation of cDNA sequences around the chromosomal breakpoint in a female with lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes [Elektronische Daten] [I. Okabe, O. Attree, L. Bailey, D. Nelson, R. Nussbaum] Summary: The Lowe oculocerebrorenal syndrome (OCRL; McKusick 309000) is an X-linked disorder characterized by congenital cataracts, muscular hypotonia, mental retardation, and Fanconi syndrome of the renal tubules. A pair of yeast artificial chromosomes (YACs) that span the Xq25-q26 translocation breakpoint in a female with OCRL were used as probes to screen cDNA libraries made from bovine lens and human kidney. The methods used to prepare the YACs as probes and to screen the libraries are presented in detail. Two different transcripts were found that map to the region around the Xq25-q26 breakpoint. These transcripts are now being studied to determine whether one or the other is a candidate gene for OCRL. SSIEM and Kluwer Academic Publishers, 1992 Okabe I. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut Attree O. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut Bailey L. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut Nelson D. Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut Nussbaum R. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 526-531 0141-8955 15:4<526 1992 15 10545 https://doi.org/10.1007/BF01799611 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799611 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Okabe I. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Attree O. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Bailey L. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Nelson D. Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Nussbaum R. Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, 422 Curie Boulevard, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 526-531 0141-8955 15:4<526 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer