Sickle cell | Updates on Specific Diseases

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From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift ?-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].  
  Hemoglobin 2017 Jul 1-7.
  Gueye Tall Fatou, Martin Cyril, Malick Ndour El Hadji, Déme Ly Indou, Renoux Céline, Chillotti Louis, Veyrenche Nicolas, Connes Philippe, Madieye Gueye Papa, Ndiaye Diallo Rokhaya, Lacan Philippe, Diagne Ibrahima, Amadou Diop Pape, Cissé Aynina, Lopez Sall Philomène, Joly Philip
• Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey.  
  Turkish journal of medical sciences 2017 Jun 47 (3): 973-978.
  Kan Karaer Derya, Ergün Mehmet Ali, Ruhi Hatice Ilg?n, Öztürk Jale, Kara Halil, Reiso?lu Çakmak Deniz, Aydo?mu? Talihanur, Perçin Emriye Fer
• Genome-wide association study to identify variants associated with vaso-occlusive pain in sickle cell anemia.  
  Blood 2017 Jun .
  Chaturvedi Shruti, Bhatnagar Pallav, Bean Christopher J, Steinberg Martin H, Milton Jacqueline N, Casella James F, Barron-Casella Emily, Arking Dan E, DeBaun Michael
• Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia.  
  Immunogenetics 2017 Jun .
  David Susana, Aguiar Pedro, Antunes Liliana, Dias Alexandra, Morais Anabela, Sakuntabhai Anavaj, Lavinha Jo
• Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon.  
  British journal of haematology 2017 May .
  Geard Amy, Pule Gift D, Chetcha Chemegni Bernard, Ngo Bitoungui Valentina J, Kengne Andre P, Chimusa Emile R, Wonkam Ambroi

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