Ontology highlight
ABSTRACT:
SUBMITTER: Burwinkel B
PROVIDER: S-EPMC1377030 | biostudies-literature | 1998 Apr
REPOSITORIES: biostudies-literature
Burwinkel B B Bakker H D HD Herschkovitz E E Moses S W SW Shin Y S YS Kilimann M W MW
American journal of human genetics 19980401 4
Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700). We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease. These are two splice-site mutations and two missense mutations. A mutation of the 5' splice-site consensus of intron 14 causes the retention of intron 14 and the utilization of two illegitimate 5' splice sites, whe ...[more]