Publications:

Functional Analysis of Retinal Flecks in Stargardt Disease.

Journal Of Clinical & Experimental Ophthalmology

Verdina, Tommaso T; Tsang, Stephen H SH; Greenstein, Vivienne C VC; Zernant, Jana J; Sodi, Andrea A; Lima, Luiz H LH; Chang, Stanley S; Allikmets, Rando R; Menchini, Ugo U

Publication Date: 2012-07-30

Variant appearance in text: ABCA4: Pro2180Leu

PubMed Link: 24409374

Variant Present in the following documents:

• Main text
• nihms535866.pdf

View BVdb publication page

Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

The Journal Of Biological Chemistry

Quazi, Faraz F; Molday, Robert S RS

Publication Date: 2013-11-29

Variant appearance in text: ABCA4: P2180L

PubMed Link: 24097981

Variant Present in the following documents:

• Main text

View BVdb publication page