Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness
✍ Scribed by Gal, Andreas; Orth, Ulrike; Baehr, Wolfgang; Schwinger, Eberhard; Rosenberg, Thomas
- Book ID
- 109915965
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 530 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1061-4036
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Mutations in the b-subunit of cGMP-phosphodiesterase (PDE6b) can lead to either progressive retinal disease, such as human retinitis pigmentosa (RP), or stationary disease, such as congenital stationary night blindness (CSNB). Individuals with CSNB in the Rambusch pedigree were found to carry the H2
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