Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)-Reference-Cited by-同舟云学术

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Published:2015-03-31 Issue:4 Volume:36 Page:463-473
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Jonsson Frida¹,Byström Berit²,Davidson Alice E.³,Backman Ludvig J.⁴,Kellgren Therese G.⁵⁶,Tuft Stephen J.³⁷,Koskela Timo⁸,Rydén Patrik⁵⁶,Sandgren Ola²,Danielson Patrik⁴,Hardcastle Alison J.³,Golovleva Irina¹

Affiliation:

1. Department of Medical Biosciences/Medical and Clinical Genetics; Umeå University; Umeå Sweden

2. Department of Clinical Sciences/Ophthalmology; Umeå University; Umeå Sweden

3. UCL Institute of Ophthalmology; London UK

4. Department of Integrative Medical Biology/Anatomy; Umeå University; Umeå Sweden

5. Department of Mathematics and Mathematical Statistics; Umeå University; Umeå Sweden

6. Computational Life Science Cluster (CLiC); Umeå University; Umeå Sweden

7. Moorfields Eye Hospital; London UK

8. Koskelas Eye Clinic; Umeå Sweden

Funder

National Swedish Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13;Balciuniene;Genomics,1995

3. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay;Baralle;J Med Genet,2003

4. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26;Burstedt;Invest Ophthalmol Vis Sci,1999

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