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|Title:||Identification of new mutation in a lad patient.||Authors:||Chan, Hwee Sing.||Keywords:||DRNTU::Science::Biological sciences||Issue Date:||2005||Abstract:||Our lab has been approached by a hospital in Austria where they have diagnosed a female patient with a high probability of having the disease LAD-I. They were unable to detect the presence of any integrin beta-2 on the cell surface of her leukocytes. In our study, we have been able to characterized two novel mutations in the patients' genomic DNA that is causing the condition of LAD-I in her. Firstly, there was a mutation of C --> A in intron 2 which resulted in the ultilization of a new splice site 43 base pairs upstream of the original splice site. There was an incorporation of 11 irrelevant amino acids followed by a premature stop codon.||URI:||http://hdl.handle.net/10356/6562||Rights:||Nanyang Technological University||Fulltext Permission:||restricted||Fulltext Availability:||With Fulltext|
|Appears in Collections:||SBS Theses|
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