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Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2015.01|Annals of Laboratory Medicine|제35권 제1호|pp. 181-184
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참고문헌 (10)
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- 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)
- 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)
- 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)
- Billingsley G, "BBS mutational analysis: a strategic approach", Ophthalmic Genet, 32, pp.181~187 (2011)
- 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)
- Katsanis N, "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder", Science, 293, pp.2256~2259 (2001)
- Nachury MV, "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis", Cell, 129, pp.1201~1203 (2007)
- 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)
- 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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