Journal of medical genetics, 2001-08, Vol.38 (8), p.527-529
2001
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Details
- Autor(en) / Beteiligte
- Titel
- Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations
- Ist Teil von
- Journal of medical genetics, 2001-08, Vol.38 (8), p.527-529
- Ort / Verlag
- London: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 2001
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- [...]in the analysis of linkage disequilibrium and the estimation of haplotype frequencies, only families for which DNA was available for genotyping from the patient and from both parents were included. [...]of this rigorous constraint, the total number of scorable haplotypes was not identical for all marker combinations.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-2593, 1468-6244eISSN: 1468-6244DOI: 10.1136/jmg.38.8.527Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734921
- Format
- –
- Schlagworte
- alpha-Glucosidases, Biological and medical sciences, Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases, Deoxyribonucleic acid, DNA, DNA - genetics, Enzymes, Exons - genetics, Fibroblasts, Genealogy, Genes, Genetic testing, Glucan 1,4-alpha-Glucosidase - genetics, Glucan 1,4-alpha-Glucosidase - metabolism, Glycogen Storage Disease Type II - enzymology, Glycogen Storage Disease Type II - genetics, Haplotypes, Letters to the Editor, Medical sciences, Mutation, Netherlands, Neurology, Parents & parenting, Patients, Polymorphism, Polymorphism, Single Nucleotide, Sequence Deletion, Statistical analysis