25 January 1998
We have recently cloned a human cDNA coding for a glucose 6-phosphate translocase which is mutated in three glycogen storage disease type 1b patients (FEBS Letters, 1997, 419, 235-238). We are interested in pursuing the analysis of this gene by SCCP and therefore are looking for samples of more GSD 1b patients. These samples could be genomic DNA or material from which we could extract DNA (whole blood, white blood cells, tissue biopsies). If you would like any more information please do not hesitate to contact one of us.
We thank you for your help.