연구동향 분석

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

전종근 이훈상 김수영 곽민정 유한욱 2014년

논문상세정보
인용/피인용
' A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 부인과, 산과학, 소아과학
  • hunamphexprotein
  • hypophospatemicrickets
  • mutation
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
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' A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature' 의 참고문헌

  • Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets
    Kang QL Biochem Biophys Res Commun 423 793-798 [2012]
  • Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets
    Sato K Pediatr Res 48 536-540 [2000]
  • PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
    Gaucher C Hum Genet 125 401-411 [2009]
  • PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
    송해룡 Journal of Korean Medical Science 22 6 981-986 [2007]
  • Novel and de novo PHEX mutations in patients with hypophosphatemic rickets
    Durmaz E Bone 52 286-291 [2013]
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    Kienitz T Exp Clin Endocrinol Diabetes 119 431-435 [2011]
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