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The variable genes and gene families of the mouse immunoglobulin κ locus

✍ Scribed by Rainer Thiebe; Karlheinz F. Schäble; Alexander Bensch; Jutta Brensing-Küppers; Verena Heim; Thomas Kirschbaum; Heike Mitlöhner; Marion Ohnrich,; Soheil Pourrajabi; Franz Röschenthaler; Jürgen Schwendinger; Daniel Wichelhaus,; Ines Zocher; Hans G. Zachau


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
210 KB
Volume
29
Category
Article
ISSN
0014-2980

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A detailed restriction map of a 430-kb contig comprising the single Ckappa, the 5 Jkappa and the adjoining 22 Vkappa gene segments is presented. The first 12 Vkappa genes following the JkappaCkappa region belong to the Vkappa21 family, the subsequent ones to the closely related families Vkappa8 and

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## Abstract CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the __CHD7__ gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five __CHD7__ mutation positive families and comment