دورية أكاديمية
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
| العنوان: | Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 |
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| المؤلفون: | Eisenberger, Tobias, Slim, Rima, Bolz, Hanno Jörn, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten |
| المصدر: | Orphanet journal of rare diseases 7, 59 (2012). doi:10.1186/1750-1172-7-59 |
| بيانات النشر: | BioMed Central |
| سنة النشر: | 2012 |
| المجموعة: | RWTH Aachen University: RWTH Publications |
| جغرافية الموضوع: | DE |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/pmid:22938382; info:eu-repo/semantics/altIdentifier/wos/WOS:000312256400001; info:eu-repo/semantics/altIdentifier/issn/1750-1172; https://publications.rwth-aachen.de/record/211053Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-073803%22Test |
| الإتاحة: | https://doi.org/10.1186/1750-1172-7-59Test https://doi.org/10.18154/RWTH-CONV-073803Test https://publications.rwth-aachen.de/record/211053Test https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-073803%22Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.9636EAE2 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |