Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity

BACKGROUND: Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, the underlying mutated genes have been identified by DNA-based techniques which, however, can overlook certain types of mutations, such as exonic-synonymous and deep-int...

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Veröffentlicht in:Clin Chem
Hauptverfasser: Youssefian, Leila, Saeidian, Amir Hossein, Palizban, Fahimeh, Bagherieh, Atefeh, Abdollahimajd, Fahimeh, Sotoudeh, Soheila, Mozafari, Nikoo, Farahani, Rahele A, Mahmoudi, Hamidreza, Babashah, Sadegh, Zabihi, Masoud, Zeinali, Sirous, Fortina, Paolo, Salas-Alanis, Julio C, South, Andrew P, Vahidnezhad, Hassan, Uitto, Jouni
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2021
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8167339/
https://ncbi.nlm.nih.gov/pubmed/33969388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/clinchem/hvab042
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