(2015) Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Human genome variation. p. 15034. ISSN 2054-345X (Print) 2054-345X (Linking)
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Official URL: http://www.ncbi.nlm.nih.gov/pubmed/27081543
Abstract
Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.
| Item Type: | Article |
|---|---|
| Keywords: | Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome |
| Page Range: | p. 15034 |
| Journal or Publication Title: | Human genome variation |
| Journal Index: | Pubmed |
| Volume: | 2 |
| Identification Number: | https://doi.org/10.1038/hgv.2015.34 |
| ISSN: | 2054-345X (Print) 2054-345X (Linking) |
| Depositing User: | مهندس مهدی شریفی |
| URI: | http://eprints.mui.ac.ir/id/eprint/5974 |
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