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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Retinal Degeneration and RDS[original query]
Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
Japanese journal of ophthalmology 2001 45 (4): 355-8.
Hayasaka S, Matsumoto M, Yamada T, Zhang XY, Hayasaka Y
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Molecular vision 2007 13 1031-7.
Gamundi María José, Hernan Imma, Muntanyola Marta, Trujillo María José, García-Sandoval Blanca, Ayuso Carmen, Baiget Montserrat, Carballo Migu
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
Molecular vision 2007 13 (): 287-92.
Gao Yong-Qing, Danciger Michael, Ozgul Riza Köksal, Gribanova Yekaterina, Jacobson Samuel, Farber Debora
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