نتایج جستجو برای: rpgr gene

تعداد نتایج: 1141474  

Journal: :The Journal of heredity 2007
Barbara Zangerl Jennifer L Johnson Gregory M Acland Gustavo D Aguirre

Canine X-linked progressive retinal atrophy (XLPRA) is an inherited blinding disorder caused by mutations in the ORF15 of the RPGR gene and homolog to human retinitis pigmentosa 3 (RP3). The disease is observed in 2 variations, XLPRA1 in Siberian husky and samoyed and XLPRA2 derived from mongrel dogs. A third, neutral, deletion has been described in red wolves. Haplotype analysis of the 633-kbp...

Journal: :Investigative Opthalmology & Visual Science 2020

Journal: :Respiration; international review of thoracic diseases 2008
Mike Failly Alexandra Saitta Analia Muñoz Emilie Falconnet Colette Rossier Francesca Santamaria Maria Margherita de Santi Romain Lazor Celia D DeLozier-Blanchet Lucia Bartoloni Jean-Louis Blouin

BACKGROUND Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epithelium of the upper airways (nose, bronchi and paranasal sinuses). Impairing the drainage of inhaled microorganisms and particles leads to recurrent...

2007
Richard Guyon Susan E. Pearce-Kelling Caroline J. Zeiss Gregory M. Acland Gustavo D. Aguirre

PURPOSE Canine X-linked progressive retinal atrophy (XLPRA) is caused by mutations in RPGR exon ORF15, which is also a mutation hotspot in human X-linked retinitis pigmentosa 3 (RP3). The XLPRA1 form of disease has shown extensive phenotypic variability in a colony of dogs that all inherited the same mutant X-chromosome. This variability in onset and severity makes XLPRA1 a valuable model to us...

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