Please use this identifier to cite or link to this item:
https://olympias.lib.uoi.gr/jspui/handle/123456789/19696| Title: | Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families |
| Institution and School/Department of submitter: | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής |
| Keywords: | Amino Acid Sequence,Base Sequence,Cohort Studies,DNA/chemistry/genetics,DNA Mutational Analysis,Family Health,Female,Genetic Variation,Humans,Male,Mutation, Missense,Pedigree,Polycystic Kidney, Autosomal Dominant/*genetics,Polymorphism, Genetic,Polymorphism, Single-Stranded Conformational,Proteins/*genetics,Sequence Deletion,Sequence Homology, Amino Acid,Sequence Homology, Nucleic Acid,TRPP Cation Channels |
| URI: | https://olympias.lib.uoi.gr/jspui/handle/123456789/19696 |
| ISSN: | 1018-4813 |
| Link: | http://www.ncbi.nlm.nih.gov/pubmed/11571556 http://www.nature.com/ejhg/journal/v9/n9/pdf/5200696a.pdf |
| Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Bouba-2001-Novel PKD1 deletions.pdf | 187.9 kB | Adobe PDF | View/Open Request a copy |
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