| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--2.9, 2.7; SmaI--4.4, 1.0; PstI--2.9, 1.8, 0.65. The 2.6kb insert differs from the GenBank entry as follows: A17C, G35C, G36A, G234A, G2573C, T2601C and it contains 24 additional nucleotides at the 3' end. The 24 additional nucleotides (GGG CTG CAG GAA TTC CTG CAG GGG) introduce EcoRI, SmaI, PstI restriction sites at the 3' end of the insert. Inserts detects an insertion/deletion polymorphism at the following nucleotides of the GenBank record G2384del and A2385del. |
| References |
Nicoletti A, et al. Molecular characterization of the human gene encoding abundant 61 kDA protein specific to the retinal pigment epithelium. Hum. Mol. Genet. 4: 641-649, 1995. PubMed: 7633413
Gu SM, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17: 194-197, 1997. PubMed: 9326941
Debra A Thompson, personal communication
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