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不典型家族性Bardet-Biedl综合征报道 被引量:2

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摘要 Bardet-Biedl综合征(BBS)是一种少见的先天性遗传性疾病,一家同胞五人中四人发病更为罕见,现报道如下:
出处 《中国实用眼科杂志》 CSCD 北大核心 2007年第10期1153-1153,共1页 Chinese Journal of Practical Ophthalmology
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  • 1Green JS, Parfrey PS, Harnett JD,et al. The cardinal manifestations at Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome New Eng J Med 1989;321:1002-1009
  • 2Warburg, M, Riise, R, Beales, P, et al. Bardet-Biedl and Cohen syndrome: differential diagnostic criteria. J Med Genet. 2000;37:46
  • 3Nishimura, DY, Swiderski, RE, Searby, CC,et al. RG, Stone, EM, Sheffield, VC. Comparative genome and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet 2005;77:1021 - 1033
  • 4Stoetzel, C.; Laurier, V.; Davis,et.al BBS 10 encodes a vertebratespecific chaperonin-like protein and is a major BBS locus. Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38:727 only. 2006
  • 5Chiang, A. P.; Beck, J. S.; Yen, H.-J,et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBSI l). Proc. Nat. Acad. Sci. 103: 6287-6292, 2006.
  • 6Stoetzel, C.; Muller, J.; Laurier, V.; identification of a novel BBS gene (BBS 12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am. J. Hum. Genet. 80: 1-11, 2007.

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