Title |
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
|
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Published in |
Orphanet Journal of Rare Diseases, February 2013
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DOI | 10.1186/1750-1172-8-20 |
Pubmed ID | |
Authors |
Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget, Carmen Ayuso |
Abstract |
CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole gene has been only performed in few cohorts, mainly in LCA patients. Here, we aimed investigating the real prevalence of CRB1 mutations in the Spanish population by extensive screening of CRB1 mutations in a large cohort of LCA and EORP cases. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 50 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 11 | 22% |
Researcher | 8 | 16% |
Student > Master | 6 | 12% |
Student > Doctoral Student | 5 | 10% |
Other | 4 | 8% |
Other | 5 | 10% |
Unknown | 11 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 16 | 32% |
Agricultural and Biological Sciences | 9 | 18% |
Medicine and Dentistry | 9 | 18% |
Chemistry | 2 | 4% |
Unknown | 14 | 28% |