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Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

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참고문헌 (10)

  1. Beales PL, "New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey", J Med Genet, 36, pp.437~446 (1999)
  2. Baker K, "Making sense of cilia in disease: the human cil-iopathies", Am J Med Genet C Semin Med Genet, 151C, pp.281~295 (2009)
  3. Deveault C, "BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition", Hum Mutat, 32, pp.610~619 (2011)
  4. Chen J, "Molecular analysis of Bardet-Biedl syndrome families: report of 21 new mutations in 10 genes", Invest Ophthalmol Vis Sci, 52, pp.5317~5324 (2011)
  5. Billingsley G, "BBS mutational analysis: a strategic approach", Ophthalmic Genet, 32, pp.181~187 (2011)
  6. Wang X, "Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing", J Med Genet, 50, pp.674~688 (2013)
  7. Katsanis N, "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder", Science, 293, pp.2256~2259 (2001)
  8. Nachury MV, "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis", Cell, 129, pp.1201~1203 (2007)
  9. Blacque OE, "Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport", Genes Dev, 18, pp.1630~1642 (2004)
  10. Zhang Q, "BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking", J Cell Sci, 126, pp.2372~2380 (2013)

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