About
Contact & Profiles
A5090730531
Research Areas
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
Tarbiat Modares University
2021
Abstract Background Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, underlying mutated genes been identified by DNA-based techniques which, however, can overlook certain types mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencing RNA (RNA-seq) identify mutations provide information about their consequences. Methods We analyzed whole transcriptome 40 families with...
10.1093/clinchem/hvab042
article
EN
Clinical Chemistry
2021-03-09
Coming Soon ...