X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene

Magdalena Ulinska; Maria Kmera-Muszynska; Kamil Szulborski; Karina Broniek-Kowalik; Maria Franaszczyk; Monika Oldak; Rafał Ploski

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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3/2014
vol. 116

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abstract:

Case report

X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene

Magdalena Ulinska

¹

,

Maria Kmera-Muszynska

¹

,

Kamil Szulborski

²

,

Karina Broniek-Kowalik

²

,

Maria Franaszczyk

²

,

Monika Oldak

³

,

Rafał Ploski

⁴

Ophthalmological Department of Medical University of Warsaw

Samodzielny Publiczny Kliniczny Szpital Okulistyczny of Warsaw

Department of Histology and Embryology of Medical University of Warsaw

Department of Medical Genetics of Medical University of Warsaw

Online publish date: 2021/05/28

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AMA

Ulinska M, Kmera-Muszynska M, Szulborski K, et al. X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene. Klinika Oczna / Acta Ophthalmologica Polonica. 2014;116(3):187-192.

APA

Ulinska, M., Kmera-Muszynska, M., Szulborski, K., Broniek-Kowalik, K., Franaszczyk, M.,  & Oldak, M. et al. (2014). X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene. Klinika Oczna / Acta Ophthalmologica Polonica, 116(3), 187-192.

Chicago

Ulinska, Magdalena, Maria Kmera-Muszynska, Kamil Szulborski, Karina Broniek-Kowalik, Maria Franaszczyk, Monika Oldak,  and Rafał Ploski. 2014. "X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene". Klinika Oczna / Acta Ophthalmologica Polonica 116 (3): 187-192.

Harvard

Ulinska, M., Kmera-Muszynska, M., Szulborski, K., Broniek-Kowalik, K., Franaszczyk, M., Oldak, M.,  and Ploski, R. (2014). X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene. Klinika Oczna / Acta Ophthalmologica Polonica, 116(3), pp.187-192.

MLA

Ulinska, Magdalena et al. "X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene." Klinika Oczna / Acta Ophthalmologica Polonica, vol. 116, no. 3, 2014, pp. 187-192.

Vancouver

Ulinska M, Kmera-Muszynska M, Szulborski K, Broniek-Kowalik K, Franaszczyk M, Oldak M et al. X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene. Klinika Oczna / Acta Ophthalmologica Polonica. 2014;116(3):187-192.

X-linked retinoschisis – clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene

Magdalena Ulinska 1 , Maria Kmera-Muszynska 1 , Kamil Szulborski 2 , Karina Broniek-Kowalik 2 , Maria Franaszczyk 2 , Monika Oldak 3 , Rafał Ploski 4

Magdalena Ulinska

¹

,

Maria Kmera-Muszynska

¹

,

Kamil Szulborski

²

,

Karina Broniek-Kowalik

²

,

Maria Franaszczyk

²

,

Monika Oldak

³

,

Rafał Ploski

⁴