Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit ( PHKG2 )

Author: van Beurden E.A.C.M.   de Graaf M.   Wendel U.   Gitzelmann R.   Berger R.   van den Berg I.E.T.  

Publisher: Elsevier

ISSN: 0006-291X

Source: Biochemical and Biophysical Research Communications, Vol.236, Iss.3, 1997-07, pp. : 544-548

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