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

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

Abstract 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...

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Autores principales: Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/2d372407022b447ebe6a08634c10139b
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