Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy-Reference-Cited by-同舟云学术

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Published:2015-01 Issue:1 Volume:122 Page:170-179
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Roosing Susanne^ORCID,van den Born L. Ingeborgh,Sangermano Riccardo,Banfi Sandro,Koenekoop Robert K.,Zonneveld-Vrieling Marijke N.,Klaver Caroline C.W.,van Lith-Verhoeven Janneke J.C.,Cremers Frans P.M.,den Hollander Anneke I.,Hoyng Carel B.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference59 articles.

1. The cone dysfunction syndromes;Michaelides;Br J Ophthalmol,2004

2. Cone rod dystrophies;Hamel;Orphanet J Rare Dis [serial online],2007

3. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders;Thiadens;Am J Hum Genet,2009

4. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21;Kohl;Hum Mol Genet,2000

5. Genetic etiology and clinical consequences of complete and incomplete achromatopsia;Thiadens;Ophthalmology,2009

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