Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease-Reference-Cited by-同舟云学术

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Published:2018-04 Issue:4 Volume:102 Page:517-527
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Albert Silvia,Garanto Alejandro,Sangermano Riccardo,Khan Mubeen,Bax Nathalie M.,Hoyng Carel B.,Zernant Jana,Lee Winston,Allikmets Rando,Collin Rob W.J.,Cremers Frans P.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference57 articles.

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4. Analysis of the ABCA4 genomic locus in Stargardt disease;Zernant;Hum. Mol. Genet.,2014

5. Binding of N-retinylidene-PE to ABCA4 and a model for its transport across membranes;Molday;Adv. Exp. Med. Biol.,2006

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