논문KCI 등재
Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
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참고문헌 (5)
- Forsythe E, "Bardet-Biedl syndrome", Eur J Hum Genet, 21, pp.8~13 (2013)
- Weihbrecht K, "Keeping an eye on Bardet-Biedl syndrome: a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye", Med Res Arch (2017)[DOI]
- Suspitsin EN, "Bardet-Biedl syndrome", Mol Syndromol, 7, pp.62~71 (2016)
- 신석준, "Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome", Annals of Laboratory Medicine, 35(1), pp.181~184 (2015), 대한진단검사의학회
- Sung Chul Yoon, "Two siblings with Bardet–Biedl syndrome caused by mutations in BBS10 : the first case identified in Korea", Journal of Genetic Medicine, 11(1), pp.31~35 (2014), 대한의학유전학회
관련 논문AI추천
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome권아림, 김명신, 김성준, 김용구, 신석준, 윤혜은, 이승옥, 채효진, 제갈동욱대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa강경은, 기창석, 김형태, 장자현, 정혜원대한진단검사의학회 · Laboratory Medicine Online2018 · 제8권 제2호Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet–Biedl Syndrome with Rod-Cone Dystrophy: A Case ReportHan Jo Kwon, Iksoo Byon, Jun Heo, Sung Who Park, Young Hwan Jeong대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제6호Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient박규형, 박성섭, 성문우, Kwangsic Joo, Se Joon Woo, Yun Jeong Lee대한안과학회 · Korean Journal of Ophthalmology2020 · 제34권 제2호Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal AnomaliesAh Reum Kim, Byoung Joon Kim, Dong Hoon Shin, Hye In Woo, Ja-Hyun Jang, Sang Jin Kim, Woong-Yang Park대한안과학회 · Korean Journal of Ophthalmology2020 · 제34권 제6호A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis김종원, 김훈동, 박종은, 온영훈, 이응석, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제1호
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