| Accession |
PRJCA000809 |
| Title |
Porphyria |
| Relevance |
Monogenic Disorder |
| Data types |
Raw sequence reads
|
| Organisms |
Homo sapiens
|
| Description |
Genetic Testing for Porphyria |
| Sample scope |
Monoisolate |
| Release date |
2018-03-27 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 29731767
|
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.
|
Frontiers in Genetics
|
10.3389/fgene.2018.00129
|
2018
|
|
|
| Submitter |
Yongjiang
zheng (zhengyj5@mail.sysu.edu.cn)
|
| Organization |
SUN YAT-SEN university |
| Submission date |
2018-03-27 |
