Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. [electronic resource]
Producer: 20040122Description: 70-5 p. digitalISSN:- 0003-9950
- Adult
- Carrier Proteins -- genetics
- Child
- DNA Mutational Analysis
- Electroretinography
- Female
- Fundus Oculi
- Genetic Heterogeneity
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation
- Night Blindness -- diagnosis
- Pedigree
- Retina -- physiology
- Retinaldehyde -- genetics
- Retinitis Pigmentosa -- diagnosis
- Visual Acuity
- Visual Fields
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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