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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2013
Aiheet:
Phenotypes
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812854/
https://ncbi.nlm.nih.gov/pubmed/23922384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101499
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia