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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 - 4 (of 4 Records)

Query Trace: Disease and PRPF3[original query]
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Molecular vision 2012 18 2398-410.
Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61.
Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Molecular vision 2013 19 654-64.
de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu
Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes.
Scientific reports 2020 Nov 10 (1): 19193.
Onengut-Gumuscu Suna, Paila Umadevi, Chen Wei-Min, Ratan Aakrosh, Zhu Zhennan, Steck Andrea K, Frohnert Brigitte I, Waugh Kathleen C, Webb-Robertson Bobbie-Jo M, Norris Jill M, Lange Leslie A, Rewers Marian J, Rich Stephen
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