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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Ann Transl Med |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
AME Publishing Company
2017
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| Θέματα: | |
| Διαθέσιμο Online: | 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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