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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Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2017
Gaiak:
Article
Sarrera elektronikoa: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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