Title |
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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Published in |
Orphanet Journal of Rare Diseases, January 2013
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DOI | 10.1186/1750-1172-8-16 |
Pubmed ID | |
Authors |
Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, the European Retinal Disease Consortium, Francesca Simonelli, Sandro Banfi |
Abstract |
Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a patient carrying no previously described mutations in known genes. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 20% |
Mexico | 1 | 20% |
Spain | 1 | 20% |
Unknown | 2 | 40% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 80% |
Scientists | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 46 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 7 | 15% |
Researcher | 7 | 15% |
Other | 6 | 13% |
Professor > Associate Professor | 4 | 9% |
Professor | 3 | 7% |
Other | 10 | 22% |
Unknown | 9 | 20% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 10 | 22% |
Medicine and Dentistry | 10 | 22% |
Agricultural and Biological Sciences | 8 | 17% |
Business, Management and Accounting | 2 | 4% |
Neuroscience | 2 | 4% |
Other | 3 | 7% |
Unknown | 11 | 24% |