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Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster

โœ Scribed by Hagen Wende; Armin Volz; Andreas Ziegler


Book ID
105948290
Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
21 KB
Volume
52
Category
Article
ISSN
0093-7711

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## Abstract Deletions of the __SHOX__ gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial __SHOX__ duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature