The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

BACKGROUND: Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the...

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Detalles Bibliográficos
Autores principales: Peluso, Ivana, Conte, Ivan, Testa, Francesco, Dharmalingam, Gopuraja, Pizzo, Mariateresa, Collin, Rob WJ, Meola, Nicola, Barbato, Sara, Mutarelli, Margherita, Ziviello, Carmela, Barbarulo, Anna Maria, Nigro, Vincenzo, Melone, Mariarosa AB, Simonelli, Francesca, Banfi, Sandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568033/
https://www.ncbi.nlm.nih.gov/pubmed/23356391
http://dx.doi.org/10.1186/1750-1172-8-16

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