scholarly journals A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

2010 ◽  
Vol 86 (4) ◽  
pp. 596-603 ◽  
Author(s):  
Johanna Dahlqvist ◽  
Joakim Klar ◽  
Neha Tiwari ◽  
Jens Schuster ◽  
Hans Törmä ◽  
...  
Keyword(s):  
Single Nucleotide ◽  
Single Nucleotide Deletion ◽  
Nucleotide Deletion ◽  
Transcriptional Switch

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Allergy ◽  
2011 ◽  
Vol 66 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
M. F. Ferraro ◽  
A. S. Moreno ◽  
E. C. Castelli ◽  
E. A. Donadi ◽  
M. S. Palma ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Single Nucleotide ◽  
Single Nucleotide Deletion ◽  
Nucleotide Deletion ◽  
Inhibitor Gene

31-OR: Single Nucleotide Deletion on Exon 2 Causes a Novel Null DRB1*01 Allele

2010 ◽  
Vol 71 ◽  
pp. S132
Author(s):  
Andrea A. Zimmerman ◽  
Laura K. Spruit ◽  
Walter F. Herczyk ◽  
Janine M. Ternes ◽  
Jerome G. Weidner ◽  
...  
Keyword(s):  
Single Nucleotide ◽  
Exon 2 ◽  
Single Nucleotide Deletion ◽  
Nucleotide Deletion
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