共 22 条
[1]
BEUTLER E, 1986, P NATL ACAD SCI USA, V83, P742
[2]
SUPERCOIL SEQUENCING - A FAST AND SIMPLE METHOD FOR SEQUENCING PLASMID DNA
[J].
DNA-A JOURNAL OF MOLECULAR & CELLULAR BIOLOGY,
1985, 4 (02)
:165-170
[4]
DETECTION OF SICKLE-CELL BETA-S-GLOBIN ALLELE BY HYBRIDIZATION WITH SYNTHETIC OLIGONUCLEOTIDES
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES,
1983, 80 (01)
:278-282
[5]
FABBRO D, 1987, AM J HUM GENET, V40, P15
[6]
Frederickson DS, 1972, METABOLIC BASIS INHE, P730
[7]
MUTATIONS OF GLUCOCEREBROSIDASE - DISCRIMINATION OF NEUROLOGIC AND NON-NEUROLOGIC PHENOTYPES OF GAUCHER DISEASE
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES,
1982, 79 (18)
:5607-5610
[8]
GRABOWSKI GA, 1985, AM J HUM GENET, V37, P499
[9]
GENETIC-HETEROGENEITY IN GAUCHER DISEASE - PHYSICOKINETIC AND IMMUNOLOGICAL STUDIES OF THE RESIDUAL ENZYME IN CULTURED FIBROBLASTS FROM NON-NEURONOPATHIC AND NEURONOPATHIC PATIENTS
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
1985, 21 (03)
:529-549
[10]
GRABOWSKI GA, 1988, LIPID STORAGE DISORD