Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accur...
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| Outros Autores: | , , , , , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2005
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/1822/2942 |
| País: | Portugal |
| Oai: | oai:repositorium.sdum.uminho.pt:1822/2942 |