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Ⅰ型神经纤维瘤病分子遗传学研究进展 被引量:2

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出处 《口腔颌面外科杂志》 CAS 2006年第1期83-86,共4页 Journal of Oral and Maxillofacial Surgery
基金 国家自然科学基金重点项目(30330580) 上海市重点(优势)学科资助(Y02030)
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同被引文献31

  • 1操德智,周列民,周珏倩,任力杰,赵霞,梁秀龄.Ⅰ型神经纤维瘤病神经纤维形成机制的初步研究[J].中国神经精神疾病杂志,2005,31(5):355-358. 被引量:2
  • 2Cui Y, Costa RM, Murphy GG. Neurofibromin regulation of ERK signaling modulates GABA release and learning [ J ]. Cell, 2008, 135(3):549 -560. 被引量:1
  • 3Hegedus B,Yeh TH, Lee da Y. Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis [ J ]. Hum Mol Genet, 2008, 17(19) : 2956 - 2966. 被引量:1
  • 4Mattocks C, Baralle D, Tarpey P, et al. Automated comparative seauence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11 - 17 distinct from the GAP related domain [J]. J Med Genet,2004,41 : e48. 被引量:1
  • 5Ars E,Kruyer H, Morell M, et al. Recurrent mutation in the NF1 gene are common among neurofibromatosis typel patients[ J]. J Med Genet, 2003,40(6) : 82. 被引量:1
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  • 8Zatkova A, Messiaen L, Vandenbroucke I, et al. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 [ J ]. Hum Mutat,2004,24: 491 - 501. 被引量:1
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  • 10Girodon-Boulandet E, Pantel J, Cazeneuve C, et al. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1 [ J ]. Hum Mutat,2000,16 ( 3 ) : 274 - 275. 被引量:1

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