Publications:

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Molecular Vision

Midgley, Nicole N; Roberts, Lisa L; Rebello, George G; Ramesar, Raj R

Publication Date: 2020

Variant appearance in text: ABCA4: 6107A>G

PubMed Link: 32913387

Variant Present in the following documents:

• Main text
• mv-v26-613.pdf

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Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM

Publication Date: 2016-11

Variant appearance in text: ABCA4: 6107A>G; Tyr2036Cys

PubMed Link: 27208204

Variant Present in the following documents:

• jmedgenet-2016-103837supp_tables.pdf

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Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.

Retina (Philadelphia, Pa.)

Collison, Frederick T FT; Fishman, Gerald A GA; McAnany, J Jason JJ; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-09

Variant appearance in text: ABCA4: Tyr2036Cys

PubMed Link: 24695063

Variant Present in the following documents:

• Main text

View BVdb publication page