Mutation spectrum in patients with fructose‐1,6‐bisphosphatase deficiency
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| Published in | Journal of inherited metabolic disease Vol. 24; no. 1; pp. 87 - 88 |
|---|---|
| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
Dordrecht
Kluwer Academic Publishers
01.02.2001
Springer Blackwell Publishing Ltd |
| Subjects | |
| Online Access | Get full text |
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| Author | Herzog, B. Morris, A. A. M. Eschrich, K. Saunders, C. |
|---|---|
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| Keywords | Fructose-bisphosphatase Human Enzyme Deficiency Phosphoric monoester hydrolases Metabolic diseases Esterases Enzymopathy Genetic determinism Genetic disease Heterogeneity Gene Etiology EC 3.1.3.11 Hydrolases Mutation Molecular biology |
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| References | 1997; 61 1999; 22 e_1_2_1_3_1 e_1_2_1_2_1 |
| References_xml | – volume: 22 start-page: 132 year: 1999 end-page: 138 article-title: Novel mutations in patients with fructose‐1,6‐bisphosphatase deficiency publication-title: J Inherit Metab Dis – volume: 61 start-page: 852 year: 1997 end-page: 861 article-title: Identification of genetic mutations in Japanese patients with fructose‐1,6‐bisphosphatase deficiency publication-title: Am J Hum Genet – ident: e_1_2_1_2_1 doi: 10.1023/A:1005489617843 – ident: e_1_2_1_3_1 doi: 10.1086/514875 |
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| SubjectTerms | Biological and medical sciences DNA Mutational Analysis Errors of metabolism Fructose-1,6-Diphosphatase Deficiency - genetics Humans Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Mutation |
| Title | Mutation spectrum in patients with fructose‐1,6‐bisphosphatase deficiency |
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