Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. (Q50425748)
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scientific article published on 31 March 2014
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. |
scientific article published on 31 March 2014 |
Statements
1 reference
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. (English)
1 reference
Koji M Nishiguchi
Almudena Avila-Fernandez
Ramon A C van Huet
Raquel Pérez-Carro
Esther MartÃn-Garrido
MarÃa Isabel López-Molina
Fiona Blanco-Kelly
Wendy A van Zelst-Stams
Javier Del Val
B Jeroen Klevering
Bart P C van de Warrenburg
Carlos Vazquez
Frans P M Cremers
Blanca GarcÃa-Sandoval
Carel B Hoyng
31 March 2014
1 reference