A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome seq...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Principais autores: Borman, Arundhati Dev, Pearce, Laura R, Mackay, Donna S, Nagel-Wolfrum, Kerstin, Davidson, Alice E, Henderson, Robert, Garg, Sumedha, Waseem, Naushin H, Webster, Andrew R, Plagnol, Vincent, Wolfrum, Uwe, Farooqi, I Sadaf, Moore, Anthony T
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4284018/
https://ncbi.nlm.nih.gov/pubmed/24375934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22482
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