본문 바로가기
KERD
논문KCI 등재

Ornithine transcarbamylase (OTC) 효소결핍증, 수포성표피박리증 및 lactic acidosis 가계에서 duplex nestedPCR 방법을 이용한 착상전 유전진단:OTC 효소결핍증 가계에서의 정상아 임신 및 출산

Successful Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency, Junctional Epidermolysis Bullosa and Lactic Acidosis UsingDuplex Nested PCR

2

조회

0

다운로드

5

인용

0

참고문헌

키워드

주제분류산부인과학

참고문헌 (22)

  1. "Choosing sex before birth", 38, pp.218~220 (1968)
  2. "Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification", 344, pp.768~770 (1990)
  3. "Genetic analysis of DNA from single human oocytes:a model for preimplantation diagnosis of cystic fibrosis", 299, pp.2~24 (1989)
  4. "Diagnosis of beta thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos", ii, pp.532~535 (1989)
  5. "Reliability of detection by polymerase chain reaction of the sickle-cell containing region of the β-globin gene in single human blastomeres", 7, pp.630~636 (1992)
  6. "ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection III (May 2001)", 17, pp.233~246 (2002)
  7. "근이양증 가계에서의 PEP-PCR을 이용한 착상전 유전자진단", 23, pp.109~114 (1996)
  8. "균형 전좌 또는 Robertsonian 전좌 보인자의 체외수정 및 배아이식술에서 형광직접보합법을 이용한 착상전 유전자진단의 임상적 적용", 43, pp.1147~1153 (2000)
  9. "유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과", 29, pp.269~278 (2002)
  10. "Structure of the human ornithine transcarbamylase gene", 103, pp.302~308 (1988)
  11. "Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency", 108, pp.236~241 (1986)
  12. "First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency", 20, pp.1048~1054 (2000)
  13. "Urea cycle enzymes. In:The metabolic and molecular bases of inherited disease", pp.1909~1963 (2000), McGraw- Hill
  14. "Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa", 9, pp.290~297 (2000)
  15. "The human pyruvate dehydrogenase complex: isolation of cDNA clones for the E1α subunit, sequence analysis, and characterization of the mRNA", 262, pp.7398~7403 (1987)
  16. "Isolation of a full-length complementary DNA coding for human E1α subunit of the pyruvate dehydrogenase complex", 263, pp.1991~1995 (1988)
  17. "Characterization of cDNAs encoding human pyruvate dehydrogenase α subunit", 86, pp.5330~5334 (1989)
  18. "Cloning and sequencing of cDNAs encoding α and β subunits of human pyruvate dehydrogenase", 85, pp.41~45 (1988)
  19. "Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency", 15, pp.209~219 (2000)
  20. "Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR:implications for preimplantation genetic diagnosis", 9, pp.411~420 (2003)
  21. "Current concepts in preimplantation genetic diagnosis (PGD) a molecular biologist's view", 8, pp.11~20 (2003)
  22. "Extending preimplantation genetic diagnosis: the ethical debate Ethical issues in new uses of preimplantation genetic diagnosis", 18, pp.465~471 (2003)

관련 논문AI추천

이 간행물의 다른 논문 (10건)