Academic Journal
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype
| العنوان: | Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype |
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| المؤلفون: | Cappuccio G, Ginocchio VM, Maffè A, Ungari S, Andria G, Melis D |
| المساهمون: | Cappuccio, G, Ginocchio, Vm, Maffè, A, Ungari, S, Andria, G, Melis, D |
| سنة النشر: | 2014 |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000329511700013; volume:85; firstpage:201; lastpage:202; numberofpages:2; journal:CLINICAL GENETICS; https://hdl.handle.net/11386/4861761; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84892486543 |
| DOI: | 10.1111/cge.12115 |
| DOI: | 10.1111/cge.12115/epdf |
| الاتاحة: | https://hdl.handle.net/11386/4861761 https://doi.org/10.1111/cge.12115 http://onlinelibrary.wiley.com/doi/10.1111/cge.12115/epdf |
| رقم الانضمام: | edsbas.1A84F221 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/cge.12115 |
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