Please use this identifier to cite or link to this item:
https://olympias.lib.uoi.gr/jspui/handle/123456789/24230| Title: | A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies |
| Institution and School/Department of submitter: | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής |
| Keywords: | Adolescent,Adult,Child,Child, Preschool,Collagen Type XI/*genetics,Female,Genetic Diseases, Inborn/*diagnosis,Genetic Testing,Heterozygote,Humans,Infant,Male,Mutation,Phenotype |
| URI: | https://olympias.lib.uoi.gr/jspui/handle/123456789/24230 |
| ISSN: | 1552-4825 |
| Link: | http://www.ncbi.nlm.nih.gov/pubmed/17236192 http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.31586/asset/31586_ftp.pdf?v=1&t=h09p10bk&s=26dd454b644cabbdee9556254d3fbb69fa15eedc |
| Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Majava-2007-A report on 10 new p.pdf | 259.64 kB | Adobe PDF | View/Open Request a copy |
This item is licensed under a Creative Commons License
