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Promoter Variants of the Human Mannose-Binding Lectin Gene Show Different Binding

✍ Scribed by Simone Jüliger; Doris Luckner; Benjamin Mordmüller; Jürgen May; Andrea Weierich; Bertrand Lell; Adrian Luty; Peter G. Kremsner; Jürgen F.J. Kun

Book ID
115586424
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
178 KB
Volume
275
Category
Article
ISSN
0006-291X

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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