Publications:

Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation.

Translational Vision Science & Technology

Ekesten, Björn B; Mäkeläinen, Suvi S; Ellis, Stuart S; Kjellström, Ulrika U; Bergström, Tomas F TF

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 4176insC

PubMed Link: 35201338

Variant Present in the following documents:

• Main text
• tvst-11-2-36.pdf

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 4176insC

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

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Large Animal Models of Inherited Retinal Degenerations: A Review.

Cells

Winkler, Paige A PA; Occelli, Laurence M LM; Petersen-Jones, Simon M SM

Publication Date: 2020-04-03

Variant appearance in text: ABCA4: 4176insC

PubMed Link: 32260251

Variant Present in the following documents:

• Main text

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An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Plos Genetics

Mäkeläinen, Suvi S; Gòdia, Marta M; Hellsand, Minas M; Viluma, Agnese A; Hahn, Daniela D; Makdoumi, Karim K; Zeiss, Caroline J CJ; Mellersh, Cathryn C; Ricketts, Sally L SL; Narfström, Kristina K; Hallböök, Finn F; Ekesten, Björn B; Andersson, Göran G; Bergström, Tomas F TF

Publication Date: 2019-03

Variant appearance in text: ABCA4: 4176insC

PubMed Link: 30889179

Variant Present in the following documents:

• Main text
• pgen.1007873.pdf

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