Three disparate studies on the CD18 integrin : expression and biological functions of the human CD18 integrin in health and disease

Three disparate studies relating to the CD18 integrin are described in this thesis. Firstly, a particularly elusive CD18 mutation in an Leukocyte Adhesion Deficiency Type I (LAD-I) patient was studied. Genomic DNA and cDNA from an LAD-I patient and her family was analyzed and characterized. This mut...

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Bibliographic Details
Main Author: Cher, Bernard Toh Hui
Other Authors: Law Sai-Kit Alex
Format: Thesis
Language:English
Published: 2012
Subjects:
Online Access:https://hdl.handle.net/10356/50537
Description
Summary:Three disparate studies relating to the CD18 integrin are described in this thesis. Firstly, a particularly elusive CD18 mutation in an Leukocyte Adhesion Deficiency Type I (LAD-I) patient was studied. Genomic DNA and cDNA from an LAD-I patient and her family was analyzed and characterized. This mutation was a gross deletion where the CD18 gene was truncated and joined to the next gene on the chromosome, PTTG1IP.