Your search returned 3 results.

Results
	1.	A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. [electronic resource] by Méjécase, C Mohand-Saïd, S El Shamieh, S Antonio, A Condroyer, C Blanchard, S Letexier, M Saraiva, J-P Sahel, J-A Audo, I Zeitz, C Producer: 20190911 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. [electronic resource] by Neuillé, M Malaichamy, S Vadalà, M Michiels, C Condroyer, C Sachidanandam, R Srilekha, S Arokiasamy, T Letexier, M Démontant, V Sahel, J-A Sen, P Audo, I Soumittra, N Zeitz, C Producer: 20170503 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. [electronic resource] by Audo, I El Shamieh, S Méjécase, C Michiels, C Demontant, V Antonio, A Condroyer, C Boyard, F Letexier, M Saraiva, J-P Blanchard, S Mohand-Saïd, S Sahel, J-A Zeitz, C Producer: 20180316 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search