RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare disease classically transmitted as an autosomal recessive trait and characterised by recurrent airway infections due to abnormal ciliary structure and function. To date, only two autosomal genes, DNAI1 and DNAH5 encoding axonemal dynein chains...

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Detalhes bibliográficos
Main Authors: Moore, A, Escudier, E, Roger, G, Tamalet, A, Pelosse, B, Marlin, S, Clément, A, Geremek, M, Delaisi, B, Bridoux, A‐M, Coste, A, Witt, M, Duriez, B, Amselem, S
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563225/
https://ncbi.nlm.nih.gov/pubmed/16055928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034868
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