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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Vydáno v:Ann Transl Med
Hlavní autoři: Chanayat, Ratchadaporn, Sawasdichai, Sunisa, Limwongse, Chanin, Thongnoppakhun, Wanna
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2017
Témata:
Molecular Genetics, Genomics, Mechanisms of Diseases
On-line přístup: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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