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Multiplex PCR of three dinucleotide repeats in the Prader–Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy
Prader−Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by a deficiency of paternal (PWS) or maternal (AS) contributions for chromosome 15 by either deletion or uniparental disomy (UPD). To further study the molecular mechanisms involved in these disor...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1993
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6739235/ https://ncbi.nlm.nih.gov/pubmed/8499903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/2.2.143 |
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