Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies. It is a genetically heterogeneous condition as six disease-causing genes have been hitherto identified. Among them, RETGC1 (GUCY2D), is more frequently implicated in our series of LCA patients
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
✍ Scribed by Hästbacka, Johanna; Kerrebrock, Anne; Mokkala, Kati; Clines, Gregory; Lovett, Michael; Kaitila, Ilkka; de la Chapelle, Albert; Lander, Eric S
- Book ID
- 110024863
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 320 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1018-4813
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