Article
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
Biochemical and biophysical research communications - 30 Jul 1997
van Beurden E A, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg I E
Abstract excerpt
To facilitate mutation analysis of patients with an autosomal recessive form of liver phosphorylase kinase deficiency, the genomic structure of the gene encoding the testis/liver gamma subunit (PHKG2) was established. The gene consist of 10 exons. The translation start site is located in exon 2....
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