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Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of patients, the disease is due to aberrant imprinting and gene silencing. Here, we describe the molecular analysis of 51 patien...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
The American Society of Human Genetics
2003
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1180233/ https://ncbi.nlm.nih.gov/pubmed/12545427 |
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