Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

BACKGROUND: Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations in the genes COL2A1, COL11A1 and COL11A2 that encode the fibrillar collagens types II and XI present in cartilage and vitreous. Rare recessive forms of Stickler syndrome exist that are due to mutations...

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Detalles Bibliográficos
Autores principales: Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812854/
https://www.ncbi.nlm.nih.gov/pubmed/23922384
http://dx.doi.org/10.1136/jmedgenet-2012-101499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812854/
https://www.ncbi.nlm.nih.gov/pubmed/23922384
http://dx.doi.org/10.1136/jmedgenet-2012-101499

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