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. Author manuscript; available in PMC: 2014 Apr 10.
Published in final edited form as: Am J Med Genet A. 2009 Sep;0(9):1952–1957. doi: 10.1002/ajmg.a.32760

Table I. Summary of PERP Immunohistochemistry Staining on Human Tissue Samples.

Sample Nucleotide Amino Acid PERP Staining
1 1630G>T D544Y Normal
2 1793G>T R598L Normal
3 1682G>A G561D Undetermined
4 1682G>T G561V Normal
5 1793G>T R598L Normal
6 1682G>A G561D Normal
7 1793G>T R598L Normal
8
Unaffected individual
Not tested Not tested Normal
9 1802A>T D601V Normal
10 1682G>A G561D Normal
12 1793G>T R598L Potentially reduced levels
13 1578C>A F526L Loss at membrane in basal and suprabasal layers
14 1793G>T R598L Undetermined
15 1631A>T D544V Normal
16 1652C>T P551L Normal
17 1578C>A F526L Normal
18 1634T>C L545P Normal
19 1682G>T G561V Loss at membrane in basal and suprabasal layers
21 1610C>T I537T Normal

Each patient sample is numbered, and specific nucleotide and amino acid changes are presented. The right-hand column summarizes the PERP staining pattern in each patient sample.