Article
Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis.
Human mutation - 1 Jan 1999
Gabolde M, Muralitharan S, Besmond C
Abstract excerpt
The three major allelic variants of the mannose-binding lectin gene are responsible for structural defects leading to immune deficiency. The corresponding mutations are all located within exon 1 and result in amino acid substitutions in the collagenous region of the protein, which is involved in the oligomerization process. We have developed a simple and efficient strategy that permits simultaneous genotyping of...
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