Molecular Analysis of an Extra inv dup(15)(q13) Chromosome in Two Patients with Angelman Syndrome
| Autor: | Arabella Smith, T. Buchholz, Lisa Robson, K. Evans, S. Schuffenhauer, B. Appleton |
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| Rok vydání: | 1996 |
| Předmět: |
Genetics
Chromosomes Human Pair 15 congenital hereditary and neonatal diseases and abnormalities Gene Dosage Chromosome Biology medicine.disease Molecular analysis Genomic Imprinting Chromosome 15 Multigene Family Angelman syndrome Chromosome Inversion dup medicine Humans Angelman Syndrome Allele Gene Genetics (clinical) Loss function |
| Zdroj: | Acta geneticae medicae et gemellologiae: twin research. 45:217-220 |
| ISSN: | 2059-6324 0001-5660 |
| DOI: | 10.1017/s0001566000001331 |
| Popis: | Angelman syndrome (AS) is caused by the loss of function of yet unidentified gene(s) which map within 15q 11-13 and show monoallelic expression from the maternal allele. Lack of the maternal allele(s), due to either a deletion on the maternal chromosome 15 (about 70% of AS patients) or a paternal uniparental disomy (UPD)15 ( |
| Databáze: | OpenAIRE |
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