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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 25, 2023. (Total: 221440Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Hemolytic-Uremic Syndrome and CFB[original query]
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Human mutation 2010 Jun 31 (6): E1445-60.
Maga Tara K, Nishimura Carla J, Weaver Amy E, Frees Kathy L, Smith Richard J
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Journal of the American Society of Nephrology : JASN 2013 Feb 24 (3): 475-86.
Bresin Elena, Rurali Erica, Caprioli Jessica, Sanchez-Corral Pilar, Fremeaux-Bacchi Veronique, Rodriguez de Cordoba Santiago, Pinto Sheila, Goodship Timothy H J, Alberti Marta, Ribes David, Valoti Elisabetta, Remuzzi Giuseppe, Noris Marina,
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
Clinical and experimental nephrology 2017 9 22 (3): 653-660.
Thergaonkar R W, Narang Ankita, Gurjar Bahadur Singh, Tiwari Pradeep, Puraswani Mamta, Saini Himanshi, Sinha Aditi, Varma Binuja, Mukerji Mitali, Hari Pankaj, Bagga Arvi
[Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatrics 2017 8 55 (8): 624-627.
Yi C L, Zhao F, Qiu H Z, Wang L M, Huang J, Nie X J, Yu Z
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Journal of immunology (Baltimore, Md. : 1950) 2018 3 200 (7): 2464-2478.
Osborne Amy J, Breno Matteo, Borsa Nicolo Ghiringhelli, Bu Fengxiao, Frémeaux-Bacchi Véronique, Gale Daniel P, van den Heuvel Lambertus P, Kavanagh David, Noris Marina, Pinto Sheila, Rallapalli Pavithra M, Remuzzi Giuseppe, Rodríguez de Cordoba Santiago, Ruiz Angela, Smith Richard J H, Vieira-Martins Paula, Volokhina Elena, Wilson Valerie, Goodship Timothy H J, Perkins Stephen
Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome.
Thrombosis research 2020 11 194 45-53.
Yun Jae Won, Oh Jisu, Lee Ki-O, Lee Seon Ju, Kim Jung Oh, Kim Nam Keun, Kim Jin Seok, Koh Youngil, Yoon Sung-Soo, Yhim Ho-Young, Jo Sang-Kyung, Park Yong, Lee Jung Eun, Park Jinny, Lee Jong Wook, Kim Sun-Hee, Kim Hee-Jin, Oh Doyeun, ,
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