Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
| Autor: | M. J. van den Boogaard, L Poenaru, Arnold J. J. Reuser, O. P. van Diggelen, M. van der Kraan, W. J. Kleijer, Marc Nicolino, Marian A. Kroos, M.G.E.M. Ausems, H.K. Ploos van Amstel |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Adolescent Mutant Molecular Sequence Data Biology medicine.disease_cause Alpha-Glucosidases Gene Frequency Glycogen storage disease type II Genetics medicine Humans Base sequence Allele Letters to the Editor Allele frequency Genetics (clinical) Alleles DNA Primers Mutation Base Sequence Glycogen Storage Disease Type II Infant alpha-Glucosidases medicine.disease Phenotype |
| Zdroj: | Journal of medical genetics. 32(10) |
| ISSN: | 0022-2593 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|