| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
HPS1 |
| Chromosomal Location |
10q23.1 |
| Allelic Variant 1 |
604982.0001; HERMANSKY-PUDLAK SYNDROME |
| Identified Mutation |
16-BP DUP; By SSCP/heteroduplex analysis and DNA sequencing, Oh et al. [Nature Genet. 14: 300 (1996)] identified a 16-bp duplication within exon 15 of the HPS gene, resulting in a frameshift distal to codon pro496, with termination of the nonsense polypeptide at codon 586. |
| |
| Gene |
HPS1 |
| Chromosomal Location |
10q23.1 |
| Allelic Variant 2 |
604982.0001; HERMANSKY-PUDLAK SYNDROME |
| Identified Mutation |
16-BP DUP; By SSCP/heteroduplex analysis and DNA sequencing, Oh et al. [Nature Genet. 14: 300 (1996)] identified a 16-bp duplication within exon 15 of the HPS gene, resulting in a frameshift distal to codon pro496, with termination of the nonsense polypeptide at codon 586. |