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Citation: Eacm. Vanbeurden et al., AUTOSOMAL RECESSIVE LIVER PHOSPHORYLASE-KINASE DEFICIENCY CAUSED BY ANOVEL SPLICE-SITE MUTATION IN GENE ENCODING THE LIVER GAMMA-SUBUNIT (PHKG2), Biochemical and biophysical research communications, 236(3), 1997, pp. 544-548

Authors: VANDENBERG IET VANBEURDEN EACM DEKLERK JBC VANDIGGELEN OP MALINGRE HEM BOER MM BERGER R

Citation: Iet. Vandenberg et al., AUTOSOMAL RECESSIVE PHOSPHORYLASE-KINASE DEFICIENCY IN LIVER, CAUSED BY MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT (PHKB), American journal of human genetics, 61(3), 1997, pp. 539-546

Authors: VANAMSTEL JKP BERGMAN AJIW VANBEURDEN EACM ROIJERS JFM PEELEN T VANDENBERG IET POLLTHE BT KVITTINGEN EA BERGER R

Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-1 - NOVEL MISSENSE, NONSENSE AND SPLICE CONSENSUS MUTATIONS IN THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE - VARIABILITY OF THE GENOTYPE-PHENOTYPE RELATIONSHIP, Human genetics, 97(1), 1996, pp. 51-59

Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM SMEITINK J POLLTHE BT VANAMSTEL JKP BERGER R

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Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM VANAMSTEL HKP POLLTHE BT SMEITINK JAM LAMERS WH BERGER R

Citation: Iet. Vandenberg et al., X-LINKED LIVER PHOSPHORYLASE-KINASE DEFICIENCY IS ASSOCIATED WITH MUTATIONS IN THE HUMAN LIVER PHOSPHORYLASE-KINASE ALPHA-SUBUNIT, American journal of human genetics, 56(2), 1995, pp. 381-387

Authors: WEERNINK PAO OTTENHOFFKALFF AE VENDRIG MP VANBEURDEN EACM STAAL GEJ RIJKSEN G

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