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无汗性外胚层发育不良一家系 被引量:1

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作者 段玲 王冬梅
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第3期358-358,共1页 Chinese Journal of Medical Genetics
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  • 1Zonana J. Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. Semin Dermatol, 1993,12 : 241-246.
  • 2Winiewski SA, Kobielak A, Trzeciak WH, et al. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet, 2002,43:97-107.
  • 3Kere J, Srivastava AK, Montonen 0, et al. X-linked anhidrotic Chypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet, 1996,13: 409-416.
  • 4Tucker AS, Headon DJ, Schneider p, et al. Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis. Development, 2000,127: 4691-4700.
  • 5Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and anhidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet, 2000, 67: 1555- 1562.
  • 6Conte C, Gambardella S, Bulli C, et al. Screening of EDAJ gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients. Genet Test, 2008,12: 437-442.
  • 7Yan M, Wang LC, Hymowitz SG, et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science, 2000,290: 523-527.
  • 8Monreal AW ,Zonana J ,Ferguson B. Identification of a new splice form of the EDAl gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet, 1998,63: 380-389.
  • 9Vincent MC, Biancalana V, Ginisty D, et al. Mutational spectrum of the EDl gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet,2001,9:355-363.
  • 10Zhao J, Hua R,Zhao X,et al. Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia. Br J Dermatol,2008,158:614-617.

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