Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population-Reference-Cited by-同舟云学术

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Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population

Published:2019 Issue: Volume: Page:269-273
ISSN:0065-2598
Container-title:Retinal Degenerative Diseases
language:
Short-container-title:

Author:

Thompson Jennifer A.,Chiang John (Pei-Wen),De Roach John N.,McLaren Terri L.,Chen Fred K.,Hoffmann Ling,Campbell Isabella,Lamey Tina M.

Publisher

Springer International Publishing

Link

http://link.springer.com/content/pdf/10.1007/978-3-030-27378-1_44

Reference25 articles.

1. Allikmets R, Singh N, Sun H et al (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236–246

2. Birtel J, Eisenberger T, Gliem M et al (2018) Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep 8:4824

3. Chiang JP, Lamey T, McLaren T et al (2015) Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy. Expert Rev Mol Diagn 15:1269–1275

4. Cornelis SS, Bax NM, Zernant J et al (2017) In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 retinal dystrophy cases. Hum Mutat 38:400–408

5. Cremers FPM, van De Pol DJR, van Driel M et al (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR. Hum Mol Genet 7:355–362

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1. An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story;Genes;2021-08-13

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