See
Genome Information for Homo sapiens
We show that dominant mutations of a Cullin 3-Rbx1 ubiquitin ligase substrate receptor, KLHL24, cause epidermolysis bullosa (EB). We have identified start codon mutations in the KLHL24 gene in five EB patients.
| Accession | PRJNA343866 |
| Data Type | Raw sequence reads, Genome sequencing, Exome |
| Scope | Multiisolate |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Submission | Registration date: 22-Sep-2016
Peking University First Hospital |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 3 |
| Other datasets |
| BioSample | 3 |