Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding variants upstream of PRDM13 (MCDR1) and a duplication includin...

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發表在:Sci Rep
Main Authors: Cipriani, Valentina, Silva, Raquel S., Arno, Gavin, Pontikos, Nikolas, Kalhoro, Ambreen, Valeina, Sandra, Inashkina, Inna, Audere, Mareta, Rutka, Katrina, Puech, Bernard, Michaelides, Michel, van Heyningen, Veronica, Lace, Baiba, Webster, Andrew R., Moore, Anthony T.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2017
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548758/
https://ncbi.nlm.nih.gov/pubmed/28790370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-06387-6
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