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

• Autorzy: Skorczyk-Werner A. , Pawłowski P. , Michalczuk M. , Warowicka A. , Wawrocka A. , Wicher K. , Bakunowicz-Lazarczyk A. , Krawczynski M.R.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2015
• Tom: 56
• Numer: 3
• Opis fizyczny: p.317–327,fig.,ref.

Twórcy

autor

Skorczyk-Werner A.

• Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60-806 Poznan, Poland

autor

Pawłowski P.

• Department of Pediatric Ophthalmology and Strabismus, Medical University of Bialystok, 17, Waszyngtona Street, 15- 275 Bialystok, Poland

autor

Michalczuk M.

• Department of Pediatric Ophthalmology and Strabismus, Medical University of Bialystok, 17, Waszyngtona Street, 15- 275 Bialystok, Poland

autor

Warowicka A.

• Center for Medical Genetics BGenesis^, 4, Grudzieniec Street, 60- 601 Poznan, Poland
• NanoBioMedical Centre, Adam Mickiewicz University, 85, Umultowska Street, 61-614 Poznan, Poland

autor

Wawrocka A.

• Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60-806 Poznan, Poland

autor

Wicher K.

• Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60-806 Poznan, Poland

autor

Bakunowicz-Lazarczyk A.

• Department of Pediatric Ophthalmology and Strabismus, Medical University of Bialystok, 17, Waszyngtona Street, 15- 275 Bialystok, Poland

autor

Krawczynski M.R.

• Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60-806 Poznan, Poland
• Center for Medical Genetics BGenesis^, 4, Grudzieniec Street, 60- 601 Poznan, Poland

Identyfikatory

DOI

10.1007/s13353-015-0281-x