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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548758/
https://www.ncbi.nlm.nih.gov/pubmed/28790370
http://dx.doi.org/10.1038/s41598-017-06387-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548758/
https://www.ncbi.nlm.nih.gov/pubmed/28790370
http://dx.doi.org/10.1038/s41598-017-06387-6

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