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Results: 1-10 |
Results: 10
MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE)
Authors: BURWINKEL B BAKKER HD HERSCHKOVITZ E MOSES SW SHIN YS KILIMANN MW
Citation: B. Burwinkel et al., MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE), American journal of human genetics, 62(4), 1998, pp. 785-791
LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY - PHKG2 GENE STRUCTURE AND MUTATIONS ASSOCIATED WITH CIRRHOSIS
Authors: BURWINKEL B SHIOMI S ALZABEN A KILIMANN MW
Citation: B. Burwinkel et al., LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY - PHKG2 GENE STRUCTURE AND MUTATIONS ASSOCIATED WITH CIRRHOSIS, Human molecular genetics, 7(1), 1998, pp. 149-154
STRUCTURE OF THE HUMAN PARALEMMIN GENE (PALM), MAPPING TO HUMAN-CHROMOSOME 19P13.3 AND MOUSE-CHROMOSOME-10, AND EXCLUSION OF CODING MUTATIONS IN GRIZZLED, MOCHA, JITTERY, AND HESITANT MICE
Authors: BURWINKEL B MIGLIERINI G JENNE DE GILBERT DJ COPELAND NG JENKINS NA RING HZ FRANCKE U KILIMANN MW
Citation: B. Burwinkel et al., STRUCTURE OF THE HUMAN PARALEMMIN GENE (PALM), MAPPING TO HUMAN-CHROMOSOME 19P13.3 AND MOUSE-CHROMOSOME-10, AND EXCLUSION OF CODING MUTATIONS IN GRIZZLED, MOCHA, JITTERY, AND HESITANT MICE, Genomics, 49(3), 1998, pp. 462-466
MUTATION ANALYSIS IN MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: VORGERD M KUBISCH C BURWINKEL B REICHMANN H MORTIER W TETTENBORN B PONGRATZ D LINDEMUTH R TEGENTHOFF M MALIN JP KILIMANN MW
Citation: M. Vorgerd et al., MUTATION ANALYSIS IN MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), Annals of neurology, 43(3), 1998, pp. 326-331
VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE
Authors: BURWINKEL B AMAT L GRAY RGF MATSUO N MUROYA K NARISAWA K SOKOL RJ VILASECA MA KILIMANN MW
Citation: B. Burwinkel et al., VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE, Human genetics, 102(4), 1998, pp. 423-429
UNEQUAL HOMOLOGOUS RECOMBINATION BETWEEN LINE-1 ELEMENTS AS A MUTATIONAL MECHANISM IN HUMAN GENETIC-DISEASE
Authors: BURWINKEL B KILIMANN MW
Citation: B. Burwinkel et Mw. Kilimann, UNEQUAL HOMOLOGOUS RECOMBINATION BETWEEN LINE-1 ELEMENTS AS A MUTATIONAL MECHANISM IN HUMAN GENETIC-DISEASE, Journal of Molecular Biology, 277(3), 1998, pp. 513-517
AUTOSOMAL GLYCOGENOSIS OF LIVER AND MUSCLE DUE TO PHOSPHORYLASE-KINASE DEFICIENCY IS CAUSED BY MUTATIONS IN THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB)
Authors: BURWINKEL B MAICHELE AJ AAGENAES O BAKKER HD LERNER A SHIN YS STRACHAN JA KILIMANN MW
Citation: B. Burwinkel et al., AUTOSOMAL GLYCOGENOSIS OF LIVER AND MUSCLE DUE TO PHOSPHORYLASE-KINASE DEFICIENCY IS CAUSED BY MUTATIONS IN THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB), Human molecular genetics, 6(7), 1997, pp. 1109-1115
PHOSPHORYLASE-KINASE-DEFICIENT LIVER GLYCOGENOSIS WITH AN UNUSUAL BIOCHEMICAL PHENOTYPE IN BLOOD-CELLS ASSOCIATED WITH A MISSENSE MUTATION IN THE BETA-SUBUNIT GENE (PHKB)
Authors: BURWINKEL B MOSES SW KILIMANN MW
Citation: B. Burwinkel et al., PHOSPHORYLASE-KINASE-DEFICIENT LIVER GLYCOGENOSIS WITH AN UNUSUAL BIOCHEMICAL PHENOTYPE IN BLOOD-CELLS ASSOCIATED WITH A MISSENSE MUTATION IN THE BETA-SUBUNIT GENE (PHKB), Human genetics, 101(2), 1997, pp. 170-174
MUTATIONS IN THE TESTIS LIVER ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG2) CAUSE AUTOSOMAL LIVER GLYCOGENOSIS IN THE GSD RAT AND IN HUMANS/
Authors: MAICHELE AJ BURWINKEL B MAIRE I SOVIK O KILIMANN MW
Citation: Aj. Maichele et al., MUTATIONS IN THE TESTIS LIVER ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG2) CAUSE AUTOSOMAL LIVER GLYCOGENOSIS IN THE GSD RAT AND IN HUMANS/, Nature genetics, 14(3), 1996, pp. 337-340
MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2)
Authors: BURWINKEL B SHIN YS BAKKER HD DEUTSCH J LOZANO MJ MAIRE I KILIMANN MW
Citation: B. Burwinkel et al., MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2), Human molecular genetics, 5(5), 1996, pp. 653-658
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