Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/7144| Title: | A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome | Authors: | Kaçar, N. Semerci, N. Ergin, Ş. Pascucci, M. Zambruno, G. Castiglia, D. |
Keywords: | KIND1 Kindler syndrome Mutation database Poikiloderma adolescent autosomal recessive disorder blood sampling case report clinical feature DNA sequence female frameshift mutation gene genodermatosis human human tissue kind1 gene kindler syndrome letter nucleotide sequence physical examination priority journal sibling skin biopsy Turkey (republic) Adolescent Blister DNA Mutational Analysis Female Frameshift Mutation Humans Membrane Proteins Neoplasm Proteins Pedigree Phenotype Photosensitivity Disorders Siblings Skin Diseases, Genetic Syndrome Turkey |
Abstract: | Abstract Not Available | URI: | https://hdl.handle.net/11499/7144 https://doi.org/10.1111/j.1365-2133.2008.08553.x |
ISSN: | 0007-0963 |
| Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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