Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

Jana Zernant, Winston Lee, Takayuki Nagasaki, Frederick T Collison, Gerald A Fishman, Mette Bertelsen, Thomas Rosenberg, Peter Gouras, Stephen H Tsang, Rando Allikmets

60 Citationer (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology