| Accession |
PRJCA014388 |
| Title |
Gene expression in a F8-related family |
| Relevance |
Medical |
| Data types |
Transcriptome or Gene expression
|
| Organisms |
Homo sapiens
|
| Description |
Chromosomal Microarray Analysis(CMA) of a female(II-2) who had experienced three times fetal miscarriages revealed structural abnormalities in the F8 gene. RNA-Seq analysis of the female's family found that: mother (I-1), proband (II-2), and younger brother (II-4) with a special structural variant of F8, and father (I-2) did not carry this structural variant, but none of the family members had hemophilia A related phenotypes. Samples tested by CMA/RNA-seq were all blood samples. |
| Sample scope |
Multiisolate |
| Release date |
2023-02-01 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 36845383
|
F8 gene inversion and duplication cause no obvious hemophilia A phenotype
|
Frontiers in Genetics
|
10.3389/fgene.2023.1098795
|
2023
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Department of Science and Technology of Guangdong Province
|
The Basic and Applied Basic Research Foundation of Guangdong
|
2021A1515220152
|
|
|
|
| Submitter |
Qing
Li (81292522@163.com)
|
| Organization |
The Third Affiliated Hospital of Guangzhou Medical University |
| Submission date |
2023-01-12 |
