@article{Sakallah01081994,
author = {Sakallah, S A and Sansieri, C and Kopp, D W and Cooper, D L and Barranger, J A}, 
title = {A new diagnostic test for Gaucher disease suitable for population screening.},
volume = {4}, 
number = {1}, 
pages = {1-5}, 
year = {1994}, 
abstract ={A new test for the diagnosis of Gaucher disease is described. The test is designed to screen large numbers of clinical specimens from high-risk populations. It consists of duplex PCR amplification of genomic DNA followed by hybridization to alkaline phosphatase-conjugated allele-specific oligonucleotide probes (ASOs). High melting temperature PCR primers were used to increase specificity and eliminate the need for a separate annealing step. All hybridization and washing steps were performed at one temperature. Chemiluminescent detection of signals is fast, and results are easily interpreted directly from x-ray films. Currently, the test is being used in our laboratories to screen Ashkenazi Jewish populations in whom Gaucher disease is common.}, 
URL = {http://genome.cshlp.org/content/4/1/1.abstract}, 
eprint = {http://genome.cshlp.org/content/4/1/1.full.pdf+html}, 
journal = {Genome Research} 
}