Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
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Mutation in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
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Nonradioactive single strand conformation polymorphism (PCR-SSCP): A simplified method applied to molecular genetic screening of retinitis pigmentosa
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Analysis of rhodopsin gene in patients with retinitis pigmentosa using allele-specific polymerase chain reaction
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Molecular analysis of glycogen storage disease type 1b: Identification of a prevalent mutation among japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11
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