Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inherit...

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Gardado en:
Detalles Bibliográficos
Publicado en:J Appl Genet
Main Authors: Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2015
Assuntos:
Human Genetics • Original Paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4543405/
https://ncbi.nlm.nih.gov/pubmed/25820994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-015-0281-x
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