مشروع البحث: Detection of e280k mutation and lts assoclatlon wlth the vntr in pah gene in pku libyan families
| dc.contributor.advisor | د.عبدالله مسعود بشين | |
| dc.date.accessioned | 2026-09-28T08:43:37Z | |
| dc.date.available | 2026-09-28T08:43:37Z | |
| dc.description | Inborn Errors of Metabolism (IEMs) comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product. All IEMs are genetically transmitted typically in an autosomal recessive or X-linked recessive fashion. IEMs are now often referred to as congenital metabolic diseases or inherited metabolic diseases (Oh, et al. 2004). One of the major categories of inherited metabolic diseases is disorder of amino acid metabolism, phenylketoneuria is one example of this disorder. | |
| dc.description.abstract | Phenylketonuria (PKU), is one of inborn errors of metabolism, is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU can lead to significant abnormal phenotypes. Till now, previous studies showed that the most common mutations in the PAH gene in the Libyan population were E280K in exon 7 and 10del5510 in exon 10. | |
| dc.identifier | 5708 | |
| dc.identifier.uri | https://dspace.academy.edu.ly/handle/123456789/2571 | |
| dc.subject | Detection of e280k mutation and lts assoclatlon wlth | |
| dc.title | Detection of e280k mutation and lts assoclatlon wlth the vntr in pah gene in pku libyan families | |
| dspace.entity.type | Project | |
| project.endDate | 2014 | |
| project.funder.name | الهندسة الطبية | |
| project.investigator | نفيسة عبدالله بخيث | |
| project.startDate | 2013 |