Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration

Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness. I...

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Podrobná bibliografie

Hlavní autoři:	Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K. Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling, Martin L. Katz, Tosso Leeb, Gustavo D. Aguirre
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Oxford University Press 2019-02-01
Edice:	G3: Genes, Genomes, Genetics
Témata:	progressive retinal atrophy PRA complex variant retinal degeneration whole genome sequencing dog palmitoyl protein thioesterase
On-line přístup:	http://g3journal.org/lookup/doi/10.1534/g3.118.200859
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