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https://olympias.lib.uoi.gr/jspui/handle/123456789/23570
Title: | Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS |
Institution and School/Department of submitter: | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής |
Keywords: | Adolescent,Adult,Child,*DNA Methylation,Exons,GTP-Binding Protein alpha Subunits, Gs/*genetics,*Gene Deletion,*Genomic Imprinting,Humans,Pedigree,Pseudohypoparathyroidism/*genetics |
URI: | https://olympias.lib.uoi.gr/jspui/handle/123456789/23570 |
ISSN: | 0021-9738 |
Link: | http://www.ncbi.nlm.nih.gov/pubmed/14561710 http://www.jci.org/articles/view/19159/files/pdf |
Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ |
Files in This Item:
File | Description | Size | Format | |
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Bastepe-2003-Autosomal dominant p.pdf | 875.42 kB | Adobe PDF | View/Open |
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