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AB096. Molecular diagnosis of aniridia or WAGR syndrome using a simple DHPLC-based semi-quantitative multiplex PCR for detection of PAX6 large deletion
BACKGROUND: Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder due to chromosomal deletions at 11p13 containing contiguous genes including PAX6 and WT1. The size of the deletion may vary among individuals. Aniridia is almost always p...
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| Publicado no: | Ann Transl Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641702/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s096 |
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